DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review

被引：0

作者：

Park, Eu Gene ^{[1
]}

Seo, Go Hun ^{[2
]}

Yang, Aram ^{[3
]}

机构：

[1] Catholic Univ Korea, Incheon St Marys Hosp, Coll Med, Dept Pediat, Incheon St, Incheon, South Korea

[2] 3billion Inc, Seoul, South Korea

[3] Sungkyunkwan Univ, Kangbuk Samsung Hosp, Dept Pediat, Sch Med, 29 Saemunan Ro, Seoul 03181, South Korea

来源：

ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2023年 / 53卷 / 02期

关键词：

DHX30; whole-exome sequencing; developmental delay; intellectual disability; NEDMIAL; STANDARDS; GENETICS; GENOMICS; DHX30;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

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 present-ing with NEDMIAL and previously unreported clinical features harboring a rare de novo DHX30 mis-sense 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.

引用

页码：325 / 333

页数：9

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