Article
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021
Zhao Arman, Zhou Rui, Gu Qin, Liu Min, Zhang Bingbing, Huang Jing, Yang Bin, Yao Ruen, Wang Jian, Lv Haitao, Wang Jian, Shen Yiping, Wang Hongying, Chen Xuqin
Abstract excerpt
BACKGROUND: Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, OMIM # 618707) is a newly described autosomal dominant condition caused by heterozygous de novo mutation in WASF1 gene. WASF1 is a key component of the WAVE regulatory complex (WRC) required for actin polymerization. So far, only 3 distinct truncating variants clustering at the WCA domain, 3 missense variants localized to...
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