1. Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
- Author
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Qian Y, Zhou Y, Wu B, Chen H, Xu S, Wang Y, Zhang P, Li G, Xu Q, Zhou W, Xu X, and Wang H
- Subjects
- Abnormalities, Multiple, China, Chromatin, DNA Helicases genetics, Face abnormalities, Hand Deformities, Congenital, Humans, Micrognathism, Neck abnormalities, Nuclear Proteins genetics, Transcription Factors genetics, Autism Spectrum Disorder, Autistic Disorder genetics, Intellectual Disability genetics
- Abstract
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Published
- 2022
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