先证者
错义突变
桑格测序
外显子组测序
医学
神经发育障碍
遗传学
语言障碍
兄弟姐妹
儿科
心理学
突变
自闭症
生物
基因
精神科
发展心理学
作者
Eu Gene Park,Go Hun Seo,Aram Yang
出处
期刊:PubMed
日期:2023-03-01
卷期号:53 (2): 325-333
摘要
DHX30 variants have recently been reported in patients with neurodevelopmental disorders with severe motor impairment and absent language (NEDMIAL). We report the first Korean siblings presenting with NEDMIAL and previously unreported clinical features harboring a rare de novo DHX30 missense variant. The proband was a 10-year-old boy presenting with intellectual disability with severe motor impairment, absent language, facial dysmorphism, strabismus, sleep disturbances, and feeding difficulties. We performed whole-exome sequencing using genomic deoxyribonucleic acid isolated from buccal swabs, which revealed a heterozygous missense variant of DHX30: (c.2344C>T, p.Arg782Trp). Sanger sequencing was conducted for the proband, the affected sister, and each parent. The same variant was confirmed in two siblings but not in their parents, suggesting the possibility of de novo germline mosaicism.
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