Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity

X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve he...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Xuan Xiao [verfasserIn] Jingmin Yang [verfasserIn] Ying Li [verfasserIn] Hongxia Yang [verfasserIn] Yijian Zhu [verfasserIn] Lianbing Li [verfasserIn] Qinlinglan Zhou [verfasserIn] Daru Lu [verfasserIn] Ting Chen [verfasserIn] Yafei Tian [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3

Übergeordnetes Werk:	In: Journal of Clinical Medicine - MDPI AG, 2013, 12(2023), 3, p 835
Übergeordnetes Werk:	volume:12 ; year:2023 ; number:3, p 835

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/jcm12030835

Katalog-ID:	DOAJ080629415

Internformat


LEADER	01000caa a22002652 4500
001	DOAJ080629415
003	DE-627
005	20240413065939.0
007	cr uuu---uuuuu
008	230310s2023 xx \|\|\|\|\|o 00\| \|\|eng c
024	7		\|a 10.3390/jcm12030835 \|2 doi
035			\|a (DE-627)DOAJ080629415
035			\|a (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac
040			\|a DE-627 \|b ger \|c DE-627 \|e rakwb
041			\|a eng
100	0		\|a Xuan Xiao \|e verfasserin \|4 aut
245	1	0	\|a Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
264		1	\|c 2023
336			\|a Text \|b txt \|2 rdacontent
337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling.
650		4	\|a <i<ARR3</i<
650		4	\|a early-onset high myopia
650		4	\|a X chromosome inactivation
650		4	\|a female-limited
650		4	\|a X-arrestin
650		4	\|a arrestin3
653		0	\|a Medicine
653		0	\|a R
700	0		\|a Jingmin Yang \|e verfasserin \|4 aut
700	0		\|a Ying Li \|e verfasserin \|4 aut
700	0		\|a Hongxia Yang \|e verfasserin \|4 aut
700	0		\|a Yijian Zhu \|e verfasserin \|4 aut
700	0		\|a Lianbing Li \|e verfasserin \|4 aut
700	0		\|a Qinlinglan Zhou \|e verfasserin \|4 aut
700	0		\|a Daru Lu \|e verfasserin \|4 aut
700	0		\|a Ting Chen \|e verfasserin \|4 aut
700	0		\|a Yafei Tian \|e verfasserin \|4 aut
773	0	8	\|i In \|t Journal of Clinical Medicine \|d MDPI AG, 2013 \|g 12(2023), 3, p 835 \|w (DE-627)718632478 \|w (DE-600)2662592-1 \|x 20770383 \|7 nnns
773	1	8	\|g volume:12 \|g year:2023 \|g number:3, p 835
856	4	0	\|u https://doi.org/10.3390/jcm12030835 \|z kostenfrei
856	4	0	\|u https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac \|z kostenfrei
856	4	0	\|u https://www.mdpi.com/2077-0383/12/3/835 \|z kostenfrei
856	4	2	\|u https://doaj.org/toc/2077-0383 \|y Journal toc \|z kostenfrei
912			\|a GBV_USEFLAG_A
912			\|a SYSFLAG_A
912			\|a GBV_DOAJ
912			\|a GBV_ILN_20
912			\|a GBV_ILN_22
912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_95
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_206
912			\|a GBV_ILN_213
912			\|a GBV_ILN_230
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_602
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4700
951			\|a AR
952			\|d 12 \|j 2023 \|e 3, p 835

Indexfelder

author_variant	x x xx j y jy y l yl h y hy y z yz l l ll q z qz d l dl t c tc y t yt
matchkey_str	article:20770383:2023----::dniiainfnvlrmsitainoir3rltdolnefmllmtdalostihypansuynhefco
hierarchy_sort_str	2023
publishDate	2023
allfields	10.3390/jcm12030835 doi (DE-627)DOAJ080629415 (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac DE-627 ger DE-627 rakwb eng Xuan Xiao verfasserin aut Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling. <i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3 Medicine R Jingmin Yang verfasserin aut Ying Li verfasserin aut Hongxia Yang verfasserin aut Yijian Zhu verfasserin aut Lianbing Li verfasserin aut Qinlinglan Zhou verfasserin aut Daru Lu verfasserin aut Ting Chen verfasserin aut Yafei Tian verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 12(2023), 3, p 835 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:12 year:2023 number:3, p 835 https://doi.org/10.3390/jcm12030835 kostenfrei https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac kostenfrei https://www.mdpi.com/2077-0383/12/3/835 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2023 3, p 835
spelling	10.3390/jcm12030835 doi (DE-627)DOAJ080629415 (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac DE-627 ger DE-627 rakwb eng Xuan Xiao verfasserin aut Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling. <i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3 Medicine R Jingmin Yang verfasserin aut Ying Li verfasserin aut Hongxia Yang verfasserin aut Yijian Zhu verfasserin aut Lianbing Li verfasserin aut Qinlinglan Zhou verfasserin aut Daru Lu verfasserin aut Ting Chen verfasserin aut Yafei Tian verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 12(2023), 3, p 835 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:12 year:2023 number:3, p 835 https://doi.org/10.3390/jcm12030835 kostenfrei https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac kostenfrei https://www.mdpi.com/2077-0383/12/3/835 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2023 3, p 835
allfields_unstemmed	10.3390/jcm12030835 doi (DE-627)DOAJ080629415 (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac DE-627 ger DE-627 rakwb eng Xuan Xiao verfasserin aut Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling. <i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3 Medicine R Jingmin Yang verfasserin aut Ying Li verfasserin aut Hongxia Yang verfasserin aut Yijian Zhu verfasserin aut Lianbing Li verfasserin aut Qinlinglan Zhou verfasserin aut Daru Lu verfasserin aut Ting Chen verfasserin aut Yafei Tian verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 12(2023), 3, p 835 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:12 year:2023 number:3, p 835 https://doi.org/10.3390/jcm12030835 kostenfrei https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac kostenfrei https://www.mdpi.com/2077-0383/12/3/835 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2023 3, p 835
allfieldsGer	10.3390/jcm12030835 doi (DE-627)DOAJ080629415 (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac DE-627 ger DE-627 rakwb eng Xuan Xiao verfasserin aut Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling. <i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3 Medicine R Jingmin Yang verfasserin aut Ying Li verfasserin aut Hongxia Yang verfasserin aut Yijian Zhu verfasserin aut Lianbing Li verfasserin aut Qinlinglan Zhou verfasserin aut Daru Lu verfasserin aut Ting Chen verfasserin aut Yafei Tian verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 12(2023), 3, p 835 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:12 year:2023 number:3, p 835 https://doi.org/10.3390/jcm12030835 kostenfrei https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac kostenfrei https://www.mdpi.com/2077-0383/12/3/835 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2023 3, p 835
allfieldsSound	10.3390/jcm12030835 doi (DE-627)DOAJ080629415 (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac DE-627 ger DE-627 rakwb eng Xuan Xiao verfasserin aut Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling. <i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3 Medicine R Jingmin Yang verfasserin aut Ying Li verfasserin aut Hongxia Yang verfasserin aut Yijian Zhu verfasserin aut Lianbing Li verfasserin aut Qinlinglan Zhou verfasserin aut Daru Lu verfasserin aut Ting Chen verfasserin aut Yafei Tian verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 12(2023), 3, p 835 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:12 year:2023 number:3, p 835 https://doi.org/10.3390/jcm12030835 kostenfrei https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac kostenfrei https://www.mdpi.com/2077-0383/12/3/835 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2023 3, p 835
language	English
source	In Journal of Clinical Medicine 12(2023), 3, p 835 volume:12 year:2023 number:3, p 835
sourceStr	In Journal of Clinical Medicine 12(2023), 3, p 835 volume:12 year:2023 number:3, p 835
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	<i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3 Medicine R
isfreeaccess_bool	true
container_title	Journal of Clinical Medicine
authorswithroles_txt_mv	Xuan Xiao @@aut@@ Jingmin Yang @@aut@@ Ying Li @@aut@@ Hongxia Yang @@aut@@ Yijian Zhu @@aut@@ Lianbing Li @@aut@@ Qinlinglan Zhou @@aut@@ Daru Lu @@aut@@ Ting Chen @@aut@@ Yafei Tian @@aut@@
publishDateDaySort_date	2023-01-01T00:00:00Z
hierarchy_top_id	718632478
id	DOAJ080629415
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ080629415</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240413065939.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230310s2023 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3390/jcm12030835</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ080629415</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Xuan Xiao</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2023</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a"><i<ARR3</i<</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">early-onset high myopia</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">X chromosome inactivation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">female-limited</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">X-arrestin</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">arrestin3</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jingmin Yang</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ying Li</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Hongxia Yang</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Yijian Zhu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lianbing Li</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Qinlinglan Zhou</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Daru Lu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ting Chen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Yafei Tian</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Journal of Clinical Medicine</subfield><subfield code="d">MDPI AG, 2013</subfield><subfield code="g">12(2023), 3, p 835</subfield><subfield code="w">(DE-627)718632478</subfield><subfield code="w">(DE-600)2662592-1</subfield><subfield code="x">20770383</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:12</subfield><subfield code="g">year:2023</subfield><subfield code="g">number:3, p 835</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.3390/jcm12030835</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://www.mdpi.com/2077-0383/12/3/835</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2077-0383</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2005</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2055</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2111</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">12</subfield><subfield code="j">2023</subfield><subfield code="e">3, p 835</subfield></datafield></record></collection>
author	Xuan Xiao
spellingShingle	Xuan Xiao misc <i<ARR3</i< misc early-onset high myopia misc X chromosome inactivation misc female-limited misc X-arrestin misc arrestin3 misc Medicine misc R Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
authorStr	Xuan Xiao
ppnlink_with_tag_str_mv	@@773@@(DE-627)718632478
format	electronic Article
delete_txt_mv	keep
author_role	aut aut aut aut aut aut aut aut aut aut
collection	DOAJ
remote_str	true
illustrated	Not Illustrated
issn	20770383
topic_title	Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity <i<ARR3</i< early-onset high myopia X chromosome inactivation female-limited X-arrestin arrestin3
topic	misc <i<ARR3</i< misc early-onset high myopia misc X chromosome inactivation misc female-limited misc X-arrestin misc arrestin3 misc Medicine misc R
topic_unstemmed	misc <i<ARR3</i< misc early-onset high myopia misc X chromosome inactivation misc female-limited misc X-arrestin misc arrestin3 misc Medicine misc R
topic_browse	misc <i<ARR3</i< misc early-onset high myopia misc X chromosome inactivation misc female-limited misc X-arrestin misc arrestin3 misc Medicine misc R
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
format_main_str_mv	Text Zeitschrift/Artikel
carriertype_str_mv	cr
hierarchy_parent_title	Journal of Clinical Medicine
hierarchy_parent_id	718632478
hierarchy_top_title	Journal of Clinical Medicine
isfreeaccess_txt	true
familylinks_str_mv	(DE-627)718632478 (DE-600)2662592-1
title	Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
ctrlnum	(DE-627)DOAJ080629415 (DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac
title_full	Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
author_sort	Xuan Xiao
journal	Journal of Clinical Medicine
journalStr	Journal of Clinical Medicine
lang_code	eng
isOA_bool	true
recordtype	marc
publishDateSort	2023
contenttype_str_mv	txt
author_browse	Xuan Xiao Jingmin Yang Ying Li Hongxia Yang Yijian Zhu Lianbing Li Qinlinglan Zhou Daru Lu Ting Chen Yafei Tian
container_volume	12
format_se	Elektronische Aufsätze
author-letter	Xuan Xiao
doi_str_mv	10.3390/jcm12030835
author2-role	verfasserin
title_sort	identification of a novel frameshift variant of <i<arr3</i< related to x-linked female-limited early-onset high myopia and study on the effect of x chromosome inactivation on the myopia severity
title_auth	Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
abstract	X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling.
abstractGer	X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling.
abstract_unstemmed	X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling.
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700
container_issue	3, p 835
title_short	Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
url	https://doi.org/10.3390/jcm12030835 https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac https://www.mdpi.com/2077-0383/12/3/835 https://doaj.org/toc/2077-0383
remote_bool	true
author2	Jingmin Yang Ying Li Hongxia Yang Yijian Zhu Lianbing Li Qinlinglan Zhou Daru Lu Ting Chen Yafei Tian
author2Str	Jingmin Yang Ying Li Hongxia Yang Yijian Zhu Lianbing Li Qinlinglan Zhou Daru Lu Ting Chen Yafei Tian
ppnlink	718632478
mediatype_str_mv	c
isOA_txt	true
hochschulschrift_bool	false
doi_str	10.3390/jcm12030835
up_date	2024-07-03T15:42:08.915Z
_version_	1803573084992569344
fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ080629415</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240413065939.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230310s2023 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3390/jcm12030835</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ080629415</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJb471b8cf34dd48a3ae87b31139230cac</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Xuan Xiao</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2023</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of <i<ARR3</i< (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the limited literature on eo-HM caused by <i<ARR3</i< mutations shows that its inheritance mode is complex, which brings certain difficulties to pre-pregnancy genetic counseling, pre-implantation genetic diagnosis, and prenatal diagnosis. Here, we investigated the genetic underpinning of a Chinese family with eo-HM. Whole exome sequencing of the proband revealed a novel frameshift mutation in <i<ARR3</i< (NM_004312, exon10, c.666delC, p. Asn222LysfsTer22). Although the mode of inheritance of the eo-HM family fits the X-linked pattern of <i<ARR3</i<, the phenotypes of three patients deviate from the typical early-onset high myopia. Through X-chromosome inactivation experiments, the patient’s different phenotypes can be precisely explained. In addition, this study not only enhanced the correlation between <i<ARR3</i< and early-onset high myopia but also provided explanations for different phenotypes, which may inspire follow-up studies. Our results enrich the knowledge of the variant spectrum in <i<ARR3</i< and provide critical information for preimplantation and prenatal genetic testing, diagnosis, and counseling.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a"><i<ARR3</i<</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">early-onset high myopia</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">X chromosome inactivation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">female-limited</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">X-arrestin</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">arrestin3</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jingmin Yang</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ying Li</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Hongxia Yang</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Yijian Zhu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lianbing Li</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Qinlinglan Zhou</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Daru Lu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ting Chen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Yafei Tian</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Journal of Clinical Medicine</subfield><subfield code="d">MDPI AG, 2013</subfield><subfield code="g">12(2023), 3, p 835</subfield><subfield code="w">(DE-627)718632478</subfield><subfield code="w">(DE-600)2662592-1</subfield><subfield code="x">20770383</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:12</subfield><subfield code="g">year:2023</subfield><subfield code="g">number:3, p 835</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.3390/jcm12030835</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/b471b8cf34dd48a3ae87b31139230cac</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://www.mdpi.com/2077-0383/12/3/835</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2077-0383</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2005</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2055</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2111</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">12</subfield><subfield code="j">2023</subfield><subfield code="e">3, p 835</subfield></datafield></record></collection>
score	7.399988

Nicht das Richtige dabei?

Schreiben Sie uns!

Identification of a Novel Frameshift Variant of <i<ARR3</i< Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity

Nicht das Richtige dabei?

Zugang & Verfügbarkeit

Vorhandene Bände

Nicht das Richtige dabei?