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Journal of Autism and Developmental Disorders

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23-11-2021 | Original Paper

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients

Auteurs: Yanyan Qian, Yuanfeng Zhou, Bingbing Wu, Huiyao Chen, Suzhen Xu, Yao Wang, Ping Zhang, Gang Li, Qiong Xu, Wenhao Zhou, Xiu Xu, Huijun Wang

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 11/2022

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.

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Titel: Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
Auteurs: Yanyan Qian
Yuanfeng Zhou
Bingbing Wu
Huiyao Chen
Suzhen Xu
Yao Wang
Ping Zhang
Gang Li
Qiong Xu
Wenhao Zhou
Xiu Xu
Huijun Wang
Publicatiedatum: 23-11-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 11/2022
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-05365-2

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