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

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.