Article
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
Human genetics - 1 Apr 2020
An Yu, Zhang Linna, Liu Wenwen, Jiang Yunyun, Chen Xue, Lan Xiaoping, Li Gan, Hang Qiang, Wang Jian, Gusella James F, Du Yasong, Shen Yiping
Abstract excerpt
CHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutations have been reported in subjects with variable phenotypes, but little is known concerning genotype-phenotype correlations. We have identified four novel de novo mutations in Chinese subjects: two nonsense variants (c.3562C>T/p.Arg1188X, c.2065C>A/p.Glu689X), a...
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