A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms

Miyako Mizukami, Aki Ishikawa, Sachiko Miyazaki, Akiko Tsuzuki, Sakae Saito, Tetsuya Niihori, Akihiro Sakurai

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)563-565
Number of pages3
JournalBrain and Development
Volume43
Issue number4
DOIs
Publication statusPublished - 2021 Apr

Keywords

  • CHD3
  • Dysmorphisms
  • Intellectual disability
  • Joint laxity
  • Snijders Blok-Campeau syndrome
  • Speech delay

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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