Identification of a c.1A ＞G initial codon variation of ARX gene in a child with severe mental retardation
10.3760/cma.j.issn.1003-9406.2020.02.007
- VernacularTitle:智力障碍患儿ARX基因起始密码c.1A＞G变异的遗传学分析
- Author:
Xueping SHEN
1
;
Feng Feng QI
;
Chunjian GU
Author Information
1. 浙江省湖州市妇幼保健院产前诊断中心 313000
- Keywords:
ARX gene;
Gene variant;
Mental retardation;
Target region capture and sequencing
- From:
Chinese Journal of Medical Genetics
2020;37(2):131-134
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the genetic basis for a child featuring severe mental retardation.Methods The child was subjected to target region capture and next generation sequencing.Suspected variants were verified by Sanger sequencing.Results The child was found to harbor a hemizygous c.1A＞G (pMet1?) variation of the ARX gene,for which his mother was a heterozygous carrier.The mutation was unreported previously and was predicted to be "probably pathogenic" by bioinformatic analysis.Conclusion The c.1A＞G (pMet1?) variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.
