Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene

AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture ki...
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Gespeichert in:

Autor*in:	Hui-Ping Li [verfasserIn] Shi-Qin Yuan [verfasserIn] Xiao-Guang Wang [verfasserIn] Xun-Lun Sheng [verfasserIn] Xiao-Rong Li [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing

Übergeordnetes Werk:	In: International Journal of Ophthalmology - Press of International Journal of Ophthalmology (IJO PRESS), 2016, 13(2020), 8, Seite 1306-1311
Übergeordnetes Werk:	volume:13 ; year:2020 ; number:8 ; pages:1306-1311

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.18240/ijo.2020.08.18

Katalog-ID:	DOAJ007713584

Internformat


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520			\|a AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia.
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Indexfelder

author_variant	h p l hpl s q y sqy x g w xgw x l s xls x r l xrl
matchkey_str	article:22274898:2020----::ypaihlnertntsimnoaeutfoaoego
hierarchy_sort_str	2020
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allfields	10.18240/ijo.2020.08.18 doi (DE-627)DOAJ007713584 (DE-599)DOAJeb267c74cf3245068ac7532bda7daa5f DE-627 ger DE-627 rakwb eng RE1-994 Hui-Ping Li verfasserin aut Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia. retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing Ophthalmology Shi-Qin Yuan verfasserin aut Xiao-Guang Wang verfasserin aut Xun-Lun Sheng verfasserin aut Xiao-Rong Li verfasserin aut In International Journal of Ophthalmology Press of International Journal of Ophthalmology (IJO PRESS), 2016 13(2020), 8, Seite 1306-1311 (DE-627)718635906 (DE-600)2663246-9 22274898 nnns volume:13 year:2020 number:8 pages:1306-1311 https://doi.org/10.18240/ijo.2020.08.18 kostenfrei https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f kostenfrei http://ies.ijo.cn/en_publish/2020/8/20200818.pdf kostenfrei https://doaj.org/toc/2222-3959 Journal toc kostenfrei https://doaj.org/toc/2227-4898 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 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_2014 GBV_ILN_2817 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 13 2020 8 1306-1311
spelling	10.18240/ijo.2020.08.18 doi (DE-627)DOAJ007713584 (DE-599)DOAJeb267c74cf3245068ac7532bda7daa5f DE-627 ger DE-627 rakwb eng RE1-994 Hui-Ping Li verfasserin aut Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia. retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing Ophthalmology Shi-Qin Yuan verfasserin aut Xiao-Guang Wang verfasserin aut Xun-Lun Sheng verfasserin aut Xiao-Rong Li verfasserin aut In International Journal of Ophthalmology Press of International Journal of Ophthalmology (IJO PRESS), 2016 13(2020), 8, Seite 1306-1311 (DE-627)718635906 (DE-600)2663246-9 22274898 nnns volume:13 year:2020 number:8 pages:1306-1311 https://doi.org/10.18240/ijo.2020.08.18 kostenfrei https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f kostenfrei http://ies.ijo.cn/en_publish/2020/8/20200818.pdf kostenfrei https://doaj.org/toc/2222-3959 Journal toc kostenfrei https://doaj.org/toc/2227-4898 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 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_2014 GBV_ILN_2817 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 13 2020 8 1306-1311
allfields_unstemmed	10.18240/ijo.2020.08.18 doi (DE-627)DOAJ007713584 (DE-599)DOAJeb267c74cf3245068ac7532bda7daa5f DE-627 ger DE-627 rakwb eng RE1-994 Hui-Ping Li verfasserin aut Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia. retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing Ophthalmology Shi-Qin Yuan verfasserin aut Xiao-Guang Wang verfasserin aut Xun-Lun Sheng verfasserin aut Xiao-Rong Li verfasserin aut In International Journal of Ophthalmology Press of International Journal of Ophthalmology (IJO PRESS), 2016 13(2020), 8, Seite 1306-1311 (DE-627)718635906 (DE-600)2663246-9 22274898 nnns volume:13 year:2020 number:8 pages:1306-1311 https://doi.org/10.18240/ijo.2020.08.18 kostenfrei https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f kostenfrei http://ies.ijo.cn/en_publish/2020/8/20200818.pdf kostenfrei https://doaj.org/toc/2222-3959 Journal toc kostenfrei https://doaj.org/toc/2227-4898 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 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_2014 GBV_ILN_2817 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 13 2020 8 1306-1311
allfieldsGer	10.18240/ijo.2020.08.18 doi (DE-627)DOAJ007713584 (DE-599)DOAJeb267c74cf3245068ac7532bda7daa5f DE-627 ger DE-627 rakwb eng RE1-994 Hui-Ping Li verfasserin aut Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia. retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing Ophthalmology Shi-Qin Yuan verfasserin aut Xiao-Guang Wang verfasserin aut Xun-Lun Sheng verfasserin aut Xiao-Rong Li verfasserin aut In International Journal of Ophthalmology Press of International Journal of Ophthalmology (IJO PRESS), 2016 13(2020), 8, Seite 1306-1311 (DE-627)718635906 (DE-600)2663246-9 22274898 nnns volume:13 year:2020 number:8 pages:1306-1311 https://doi.org/10.18240/ijo.2020.08.18 kostenfrei https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f kostenfrei http://ies.ijo.cn/en_publish/2020/8/20200818.pdf kostenfrei https://doaj.org/toc/2222-3959 Journal toc kostenfrei https://doaj.org/toc/2227-4898 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 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_2014 GBV_ILN_2817 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 13 2020 8 1306-1311
allfieldsSound	10.18240/ijo.2020.08.18 doi (DE-627)DOAJ007713584 (DE-599)DOAJeb267c74cf3245068ac7532bda7daa5f DE-627 ger DE-627 rakwb eng RE1-994 Hui-Ping Li verfasserin aut Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia. retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing Ophthalmology Shi-Qin Yuan verfasserin aut Xiao-Guang Wang verfasserin aut Xun-Lun Sheng verfasserin aut Xiao-Rong Li verfasserin aut In International Journal of Ophthalmology Press of International Journal of Ophthalmology (IJO PRESS), 2016 13(2020), 8, Seite 1306-1311 (DE-627)718635906 (DE-600)2663246-9 22274898 nnns volume:13 year:2020 number:8 pages:1306-1311 https://doi.org/10.18240/ijo.2020.08.18 kostenfrei https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f kostenfrei http://ies.ijo.cn/en_publish/2020/8/20200818.pdf kostenfrei https://doaj.org/toc/2222-3959 Journal toc kostenfrei https://doaj.org/toc/2227-4898 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 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_2014 GBV_ILN_2817 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 13 2020 8 1306-1311
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source	In International Journal of Ophthalmology 13(2020), 8, Seite 1306-1311 volume:13 year:2020 number:8 pages:1306-1311
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authorswithroles_txt_mv	Hui-Ping Li @@aut@@ Shi-Qin Yuan @@aut@@ Xiao-Guang Wang @@aut@@ Xun-Lun Sheng @@aut@@ Xiao-Rong Li @@aut@@
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callnumber-first	R - Medicine
author	Hui-Ping Li
spellingShingle	Hui-Ping Li misc RE1-994 misc retinitis pigmentosa misc myopia misc retinitis pigmentosa gtpase regulator misc whole exome sequencing misc Ophthalmology Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
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topic_title	RE1-994 Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing
topic	misc RE1-994 misc retinitis pigmentosa misc myopia misc retinitis pigmentosa gtpase regulator misc whole exome sequencing misc Ophthalmology
topic_unstemmed	misc RE1-994 misc retinitis pigmentosa misc myopia misc retinitis pigmentosa gtpase regulator misc whole exome sequencing misc Ophthalmology
topic_browse	misc RE1-994 misc retinitis pigmentosa misc myopia misc retinitis pigmentosa gtpase regulator misc whole exome sequencing misc Ophthalmology
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title	Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
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title_full	Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
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journal	International Journal of Ophthalmology
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author_browse	Hui-Ping Li Shi-Qin Yuan Xiao-Guang Wang Xun-Lun Sheng Xiao-Rong Li
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title_sort	myopia with x-linked retinitis pigmentosa results from a novel gross deletion of rpgr gene
callnumber	RE1-994
title_auth	Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
abstract	AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia.
abstractGer	AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia.
abstract_unstemmed	AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia.
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title_short	Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
url	https://doi.org/10.18240/ijo.2020.08.18 https://doaj.org/article/eb267c74cf3245068ac7532bda7daa5f http://ies.ijo.cn/en_publish/2020/8/20200818.pdf https://doaj.org/toc/2222-3959 https://doaj.org/toc/2227-4898
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author2	Shi-Qin Yuan Xiao-Guang Wang Xun-Lun Sheng Xiao-Rong Li
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up_date	2024-07-03T13:40:44.082Z
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Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene

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