两个新生儿枫糖尿病家系的遗传学分析

Chuan Zhang; Xuan Feng; Liguo Yao; Shengju Hao; Ling Hui; Xue Chen; Lei Zheng; Xing Wang; Qinghua Zhang; Zongfu Cao

doi:10.3760/cma.j.cn511374-20210225-00162

两个新生儿枫糖尿病家系的遗传学分析

Translated title of the contribution: Genetic analysis of two Chinese families with maple syrup urine disease

Chuan Zhang, Xuan Feng, Liguo Yao, Shengju Hao, Ling Hui, Xue Chen, Lei Zheng, Xing Wang, Qinghua Zhang, Zongfu Cao

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Objective To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD). Methods Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD. Results The proband from family 1 was found to harbor homozygous C.560G>T (p.GIy187Val) variant of the BCKDHB gene (NM-000056), whilst the two patients from family 2 were found to harbor compound heterozygous variants c.1972A>G (splicing)/c.218delT (p.F74Sfs^∗4) of the BCKDHB gene. Among these, the c.560G>T and c. 218delT variants were unreported previously. Conclusion The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.

Translated title of the contribution	Genetic analysis of two Chinese families with maple syrup urine disease
Original language	Chinese (Traditional)
Pages (from-to)	689-693
Number of pages	5
Journal	Chinese Journal of Medical Genetics
Volume	39
Issue number	7
DOIs	https://doi.org/10.3760/cma.j.cn511374-20210225-00162
State	Published - 1 Jul 2022
Externally published	Yes

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title = "两个新生儿枫糖尿病家系的遗传学分析",

abstract = "Objective To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD). Methods Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD. Results The proband from family 1 was found to harbor homozygous C.560G>T (p.GIy187Val) variant of the BCKDHB gene (NM-000056), whilst the two patients from family 2 were found to harbor compound heterozygous variants c.1972A>G (splicing)/c.218delT (p.F74Sfs∗4) of the BCKDHB gene. Among these, the c.560G>T and c. 218delT variants were unreported previously. Conclusion The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.",

keywords = "Genetic analysis, Maple syrup urine disease, Prenatal diagnosis",

author = "Chuan Zhang and Xuan Feng and Liguo Yao and Shengju Hao and Ling Hui and Xue Chen and Lei Zheng and Xing Wang and Qinghua Zhang and Zongfu Cao",

year = "2022",

month = jul,

day = "1",

doi = "10.3760/cma.j.cn511374-20210225-00162",

language = "繁体中文",

volume = "39",

pages = "689--693",

journal = "Chinese Journal of Medical Genetics",

issn = "1003-9406",

publisher = "Chinese Medical Journals Publishing House Co.Ltd",

number = "7",

}

TY - JOUR

T1 - 两个新生儿枫糖尿病家系的遗传学分析

AU - Zhang, Chuan

AU - Feng, Xuan

AU - Yao, Liguo

AU - Hao, Shengju

AU - Hui, Ling

AU - Chen, Xue

AU - Zheng, Lei

AU - Wang, Xing

AU - Zhang, Qinghua

AU - Cao, Zongfu

PY - 2022/7/1

Y1 - 2022/7/1

N2 - Objective To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD). Methods Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD. Results The proband from family 1 was found to harbor homozygous C.560G>T (p.GIy187Val) variant of the BCKDHB gene (NM-000056), whilst the two patients from family 2 were found to harbor compound heterozygous variants c.1972A>G (splicing)/c.218delT (p.F74Sfs∗4) of the BCKDHB gene. Among these, the c.560G>T and c. 218delT variants were unreported previously. Conclusion The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.

AB - Objective To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD). Methods Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD. Results The proband from family 1 was found to harbor homozygous C.560G>T (p.GIy187Val) variant of the BCKDHB gene (NM-000056), whilst the two patients from family 2 were found to harbor compound heterozygous variants c.1972A>G (splicing)/c.218delT (p.F74Sfs∗4) of the BCKDHB gene. Among these, the c.560G>T and c. 218delT variants were unreported previously. Conclusion The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.

KW - Genetic analysis

KW - Maple syrup urine disease

KW - Prenatal diagnosis

UR - http://www.scopus.com/inward/record.url?scp=85134425746&partnerID=8YFLogxK

U2 - 10.3760/cma.j.cn511374-20210225-00162

DO - 10.3760/cma.j.cn511374-20210225-00162

M3 - 文章

C2 - 35810422

AN - SCOPUS:85134425746

SN - 1003-9406

VL - 39

SP - 689

EP - 693

JO - Chinese Journal of Medical Genetics

JF - Chinese Journal of Medical Genetics

IS - 7

ER -

两个新生儿枫糖尿病家系的遗传学分析

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