BACKGROUND Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to be a cause of a neurodevelopmental syndrome by Snijders Blok et al., but only a small number of probands have been reported. CASE REPORT The patient was a 9-year-old female with severe intellectual disability, speech impairment, autism, joint laxity and dysmorphisms. Whole exome sequencing revealed a de novo missense variant in CHD3 (NM_001005273:exon18: c.2896C > T:p.R966W). CONCLUSION We report a case with a pathogenic variant in the CHD3 gene. Our report indicates that CHD3 analysis is helpful for diagnosis of the cases with neurodevelopmental disorders, joint laxity, and coarse facial phenotype.

中文翻译：

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智力障碍、自闭症、关节松弛和畸形儿童的新发 CHD3 变异

背景色域解旋酶DNA结合(CHD)蛋白在发育过程中起重要作用。CHD3 是 CHD 蛋白家族的成员，据 Snijders Blok 等人报道，它是导致神经发育综合征的原因，但仅报道了少数先证者。病例报告 患者是一名 9 岁女性，患有严重的智力障碍、语言障碍、自闭症、关节松弛和畸形。全外显子组测序揭示了 CHD3 中的一个 de novo 错义变异（NM_001005273:exon18: c.2896C > T:p.R966W）。结论 我们报告了一例 CHD3 基因致病性变异的病例。我们的报告表明 CHD3 分析有助于诊断神经发育障碍、关节松弛和面部粗糙表型的病例。