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

## TL;DR

A 71-year-old woman with a rare BICRA gene variant shows expanded symptoms and long-term outcomes for this condition.

## Contribution

This is the oldest reported case of a pathogenic BICRA variant, expanding the known clinical phenotype.

## Key findings

- A novel BICRA variant (c.1910del) was identified in a patient with intellectual disabilities and psychiatric symptoms.
- The case expands the known clinical features and long-term prognosis of BICRA-related disorders.
- This is the first reported case of a BICRA variant in an individual over 70 years old.

## Abstract

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.