Molecular characteristics

Variants in the SMARCC2 gene have been shown to cause a neurodevelopmental disorder similar to other BAF-related disorders. Mutations in SMARCC2 are scattered throughout the gene, however 9 of the reported 15 patients have variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM). These patients present with a more severe phenotype.

To date, all of the individuals have been found to have autosomal dominant variants in SMARCC2. In individuals wherein parental data are available, the variants are thought to be believed to be de novo as with other BAF-related disorders.

All variants identified so far have been detected through NGS-level genomic sequencing (either whole exome sequencing or whole genome sequencing).