Miyako Mizukami1, Aki Ishikawa2, Sachiko Miyazaki2, Akiko Tsuzuki3, Sakae Saito4, Tetsuya Niihori5, Akihiro Sakurai2. 1. Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan. Electronic address: mizukami@sapmed.ac.jp. 2. Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan. 3. Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan. 4. Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; Graduate School of Medicine, Tohoku, University, Sendai, Japan. 5. Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
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.
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.