Back to Search
Start Over
A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms
- Source :
- Brain and Development. 43:563-565
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
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.
- Subjects :
- Proband
Genetics
business.industry
General Medicine
medicine.disease
Joint laxity
Chromodomain
03 medical and health sciences
0302 clinical medicine
Developmental Neuroscience
Pediatrics, Perinatology and Child Health
Speech delay
Intellectual disability
Medicine
Autism
Missense mutation
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
Exome sequencing
Subjects
Details
- ISSN :
- 03877604
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Brain and Development
- Accession number :
- edsair.doi...........5bda6807965c2a6880e13dfb80b34e9d