TY - JOUR
T1 - A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms
AU - Mizukami, Miyako
AU - Ishikawa, Aki
AU - Miyazaki, Sachiko
AU - Tsuzuki, Akiko
AU - Saito, Sakae
AU - Niihori, Tetsuya
AU - Sakurai, Akihiro
N1 - Funding Information:
We thank the members of the Tohoku University IRUD analysis center, including Ikuko Motoike, Fumiki Katsuoka, Kengo Kinoshita, Taiki Abe and Yoko Aoki, for exome sequencing.
Publisher Copyright:
© 2020 The Japanese Society of Child Neurology
PY - 2021/4
Y1 - 2021/4
N2 - 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.
AB - 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.
KW - CHD3
KW - Dysmorphisms
KW - Intellectual disability
KW - Joint laxity
KW - Snijders Blok-Campeau syndrome
KW - Speech delay
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U2 - 10.1016/j.braindev.2020.12.004
DO - 10.1016/j.braindev.2020.12.004
M3 - Article
C2 - 33358638
AN - SCOPUS:85098225262
SN - 0387-7604
VL - 43
SP - 563
EP - 565
JO - Brain and Development
JF - Brain and Development
IS - 4
ER -