一名智力残疾、自闭症、关节松弛和畸形儿童携带的新发 CHD3 变异。
A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.
机构信息
Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
出版信息
Brain Dev. 2021 Apr;43(4):563-565. doi: 10.1016/j.braindev.2020.12.004. Epub 2020 Dec 24.
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.
背景
染色质解旋酶 DNA 结合（CHD）蛋白在发育过程中发挥重要作用。Snijders Blok 等人报道 CHD 家族蛋白的成员 CHD3 是神经发育综合征的病因，但仅有少数报道的先证者。
病例报告
患者为 9 岁女性，表现为严重智力残疾、言语障碍、自闭症、关节松弛和畸形。全外显子组测序显示 CHD3 中存在一个新生错义变异（NM_001005273:exon18: c.2896C>T:p.R966W）。
结论
我们报告了一例 CHD3 基因的致病性变异。我们的报告表明，CHD3 分析有助于诊断具有神经发育障碍、关节松弛和粗糙面部表型的病例。
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