A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report

We report a 71-year-old female patient with a history of intellectual disabilities, dysmorphic features, schizoaffective disorder, bipolar type, and psychosis. Exome sequencing revealed a novel, heterozygous, predicted loss-of-function variant in the BICRA gene (NM_015711.3: c.1910del, p.[Leu637ArgfsTer87]). Heterozygous rare variants in BICRA have been associated with Coffin-Siris Syndrome 12 (CSS-12; OMIM #619325). This is the oldest patient to date with a pathogenic variant in BICRA. This case report expands the clinical phenotype associated with BICRA variants and sheds light on the long-term prognosis.