Article
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
American journal of medical genetics. Part A - 1 May 2016
Merner Nancy, Forgeot d'Arc Baudouin, Bell Scott C, Maussion Gilles, Peng Huashan, Gauthier Julie, Crapper Liam, Hamdan Fadi F, Michaud Jacques L, Mottron Laurent, Rouleau Guy A, Ernst Carl
Abstract excerpt
Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder. To better understand the phenotype associated with CHD8 mutations, we genotyped all CHD8 exons in carefully assessed cohorts of autism (n = 142), schizophrenia (SCZ; n = 143), and intellectual disability (ID; n = 94). We identified one frameshift mutation, seven...
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