遗传学
先证者
外显子组测序
生物
自闭症谱系障碍
基因
拷贝数变化
表型
突变
复合杂合度
遗传异质性
血缘关系
自闭症
医学
基因组
精神科
作者
Ansa Rabia,Ricardo Harripaul,Anna Mikhailov,Saqib Mahmood,Shazia Maqbool,John B. Vincent,Muhammad Ayub
出处
期刊:Genes
[Multidisciplinary Digital Publishing Institute]
日期:2022-09-11
卷期号:13 (9): 1633-1633
被引量:1
标识
DOI:10.3390/genes13091633
摘要
The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in populations in which consanguineous marriages are common. What is also becoming more apparent is the degree of pleiotropy, whereby mutations in the same gene may have quite different phenotypic and clinical consequences. We performed whole exome sequencing in a group of 115 trios from countries with a high level of consanguineous marriages. In this paper we report genetic and clinical findings on a proband with ASD, who inherited a biallelic truncating pathogenic/likely pathogenic variant in the gene encoding voltage-gated sodium channel X alpha subunit, SCN10A (NM_006514.2:c.937G>T:(p.Gly313*)). The biallelic pathogenic/likely pathogenic variant in this study have different clinical features than heterozygous mutations in the same gene. The study of consanguineous families for autism spectrum disorder is highly valuable.
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