Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing

Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the as...
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Autor*in:	Tan, Hu [verfasserIn] Xie, Yinong [verfasserIn] Chen, Fei [verfasserIn] Chen, Min [verfasserIn] Yu, Li [verfasserIn] Chen, Dunjin [verfasserIn] Chen, Jingsi [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation

Übergeordnetes Werk:	Enthalten in: Clinica chimica acta - Amsterdam [u.a.] : Elsevier Science, 1956, 510, Seite 599-604
Übergeordnetes Werk:	volume:510 ; pages:599-604

DOI / URN:	10.1016/j.cca.2020.08.018

Katalog-ID:	ELV004782704

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245	1	0	\|a Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
264		1	\|c 2020
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337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses.
650		4	\|a Fetus
650		4	\|a Central nervous system abnormalities
650		4	\|a Trios-medical exome sequencing
650		4	\|a Diagnosis
650		4	\|a Novel mutation
700	1		\|a Xie, Yinong \|e verfasserin \|4 aut
700	1		\|a Chen, Fei \|e verfasserin \|4 aut
700	1		\|a Chen, Min \|e verfasserin \|4 aut
700	1		\|a Yu, Li \|e verfasserin \|4 aut
700	1		\|a Chen, Dunjin \|e verfasserin \|4 aut
700	1		\|a Chen, Jingsi \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Clinica chimica acta \|d Amsterdam [u.a.] : Elsevier Science, 1956 \|g 510, Seite 599-604 \|h Online-Ressource \|w (DE-627)306654423 \|w (DE-600)1499920-1 \|w (DE-576)094531242 \|x 1873-3492 \|7 nnns
773	1	8	\|g volume:510 \|g pages:599-604
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912			\|a GBV_ILN_63
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912			\|a GBV_ILN_69
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912			\|a GBV_ILN_73
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912			\|a GBV_ILN_90
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912			\|a GBV_ILN_2038
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912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2118
912			\|a GBV_ILN_2122
912			\|a GBV_ILN_2129
912			\|a GBV_ILN_2143
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912			\|a GBV_ILN_2152
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912			\|a GBV_ILN_4313
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912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4335
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4393
936	b	k	\|a 35.00 \|j Chemie: Allgemeines
936	b	k	\|a 44.46 \|j Klinische Pathologie
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Indexfelder

author_variant	h t ht y x yx f c fc m c mc l y ly d c dc j c jc
matchkey_str	article:18733492:2020----::oeadeurnvratietfeiftssihetanrosytmbomlte
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bklnumber	35.00 44.46
publishDate	2020
allfields	10.1016/j.cca.2020.08.018 doi (DE-627)ELV004782704 (ELSEVIER)S0009-8981(20)30411-3 DE-627 ger DE-627 rda eng 540 610 DE-600 35.00 bkl 44.46 bkl Tan, Hu verfasserin aut Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses. Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation Xie, Yinong verfasserin aut Chen, Fei verfasserin aut Chen, Min verfasserin aut Yu, Li verfasserin aut Chen, Dunjin verfasserin aut Chen, Jingsi verfasserin aut Enthalten in Clinica chimica acta Amsterdam [u.a.] : Elsevier Science, 1956 510, Seite 599-604 Online-Ressource (DE-627)306654423 (DE-600)1499920-1 (DE-576)094531242 1873-3492 nnns volume:510 pages:599-604 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 35.00 Chemie: Allgemeines 44.46 Klinische Pathologie AR 510 599-604
spelling	10.1016/j.cca.2020.08.018 doi (DE-627)ELV004782704 (ELSEVIER)S0009-8981(20)30411-3 DE-627 ger DE-627 rda eng 540 610 DE-600 35.00 bkl 44.46 bkl Tan, Hu verfasserin aut Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses. Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation Xie, Yinong verfasserin aut Chen, Fei verfasserin aut Chen, Min verfasserin aut Yu, Li verfasserin aut Chen, Dunjin verfasserin aut Chen, Jingsi verfasserin aut Enthalten in Clinica chimica acta Amsterdam [u.a.] : Elsevier Science, 1956 510, Seite 599-604 Online-Ressource (DE-627)306654423 (DE-600)1499920-1 (DE-576)094531242 1873-3492 nnns volume:510 pages:599-604 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 35.00 Chemie: Allgemeines 44.46 Klinische Pathologie AR 510 599-604
allfields_unstemmed	10.1016/j.cca.2020.08.018 doi (DE-627)ELV004782704 (ELSEVIER)S0009-8981(20)30411-3 DE-627 ger DE-627 rda eng 540 610 DE-600 35.00 bkl 44.46 bkl Tan, Hu verfasserin aut Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses. Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation Xie, Yinong verfasserin aut Chen, Fei verfasserin aut Chen, Min verfasserin aut Yu, Li verfasserin aut Chen, Dunjin verfasserin aut Chen, Jingsi verfasserin aut Enthalten in Clinica chimica acta Amsterdam [u.a.] : Elsevier Science, 1956 510, Seite 599-604 Online-Ressource (DE-627)306654423 (DE-600)1499920-1 (DE-576)094531242 1873-3492 nnns volume:510 pages:599-604 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 35.00 Chemie: Allgemeines 44.46 Klinische Pathologie AR 510 599-604
allfieldsGer	10.1016/j.cca.2020.08.018 doi (DE-627)ELV004782704 (ELSEVIER)S0009-8981(20)30411-3 DE-627 ger DE-627 rda eng 540 610 DE-600 35.00 bkl 44.46 bkl Tan, Hu verfasserin aut Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses. Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation Xie, Yinong verfasserin aut Chen, Fei verfasserin aut Chen, Min verfasserin aut Yu, Li verfasserin aut Chen, Dunjin verfasserin aut Chen, Jingsi verfasserin aut Enthalten in Clinica chimica acta Amsterdam [u.a.] : Elsevier Science, 1956 510, Seite 599-604 Online-Ressource (DE-627)306654423 (DE-600)1499920-1 (DE-576)094531242 1873-3492 nnns volume:510 pages:599-604 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 35.00 Chemie: Allgemeines 44.46 Klinische Pathologie AR 510 599-604
allfieldsSound	10.1016/j.cca.2020.08.018 doi (DE-627)ELV004782704 (ELSEVIER)S0009-8981(20)30411-3 DE-627 ger DE-627 rda eng 540 610 DE-600 35.00 bkl 44.46 bkl Tan, Hu verfasserin aut Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses. Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation Xie, Yinong verfasserin aut Chen, Fei verfasserin aut Chen, Min verfasserin aut Yu, Li verfasserin aut Chen, Dunjin verfasserin aut Chen, Jingsi verfasserin aut Enthalten in Clinica chimica acta Amsterdam [u.a.] : Elsevier Science, 1956 510, Seite 599-604 Online-Ressource (DE-627)306654423 (DE-600)1499920-1 (DE-576)094531242 1873-3492 nnns volume:510 pages:599-604 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 35.00 Chemie: Allgemeines 44.46 Klinische Pathologie AR 510 599-604
language	English
source	Enthalten in Clinica chimica acta 510, Seite 599-604 volume:510 pages:599-604
sourceStr	Enthalten in Clinica chimica acta 510, Seite 599-604 volume:510 pages:599-604
format_phy_str_mv	Article
bklname	Chemie: Allgemeines Klinische Pathologie
institution	findex.gbv.de
topic_facet	Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation
dewey-raw	540
isfreeaccess_bool	false
container_title	Clinica chimica acta
authorswithroles_txt_mv	Tan, Hu @@aut@@ Xie, Yinong @@aut@@ Chen, Fei @@aut@@ Chen, Min @@aut@@ Yu, Li @@aut@@ Chen, Dunjin @@aut@@ Chen, Jingsi @@aut@@
publishDateDaySort_date	2020-01-01T00:00:00Z
hierarchy_top_id	306654423
dewey-sort	3540
id	ELV004782704
language_de	englisch
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The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. 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author	Tan, Hu
spellingShingle	Tan, Hu ddc 540 bkl 35.00 bkl 44.46 misc Fetus misc Central nervous system abnormalities misc Trios-medical exome sequencing misc Diagnosis misc Novel mutation Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
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topic_title	540 610 DE-600 35.00 bkl 44.46 bkl Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing Fetus Central nervous system abnormalities Trios-medical exome sequencing Diagnosis Novel mutation
topic	ddc 540 bkl 35.00 bkl 44.46 misc Fetus misc Central nervous system abnormalities misc Trios-medical exome sequencing misc Diagnosis misc Novel mutation
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title	Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
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title_full	Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
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dewey-full	540 610
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title_sort	novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
title_auth	Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
abstract	Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses.
abstractGer	Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses.
abstract_unstemmed	Background: Fetal central nervous system abnormalities often associated with infant death or severe disability. The etiology in fetuses with CNS abnormalities who have normal karyotypes and copy number variants (CNVs) remains unclear, which increases the difficulty in following management and the assessment of prognosis.Method: 11 unrelated fetuses with CNS abnormalities and their parents were enrolled. Genomic DNA was obtained and then trios-medical exome sequencing (trios-MES) including 4000 genes (fetuses and their parents) was performed after both karyotyping and chromosome microarray showed negative results.Results: Pathogenic and likely pathogenic variants were identified in five of 11 cases (5/11, 45.5%), including five novel mutations and two recurrent mutations in ISPD, L1CAM, and GRIN2B genes. Most cases (4/5, 80%) carried one or two recessive mutations, indicating a high recurrent risk.Conclusion: Exome sequencing should be considered for fetuses with CNS abnormalities following negative results of karyotyping and chromosome array. Trios-MES as one of exome sequencing is a potential method for the diagnosis of these fetuses.
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title_short	Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
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author2	Xie, Yinong Chen, Fei Chen, Min Yu, Li Chen, Dunjin Chen, Jingsi
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up_date	2024-07-07T00:07:57.162Z
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Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing

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