Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder

TL;DR

A case report links a BICRA gene mutation to autism spectrum disorder, highlighting its role in neurodevelopmental disorders.

Contribution

This case report identifies a rare BICRA gene mutation in an ASD patient, expanding its known association with neurodevelopmental disorders.

Findings

A three-year-old male with ASD had a BICRA gene variant (c.1246G>C, p.Ala416Pro).

BICRA-related disorders include developmental delay, intellectual disability, and dysmorphic features.

The case suggests chromatin remodeling may play a role in ASD etiology.

Abstract

Pathogenic variants in the BRD4 interacting chromatin remodeling complex associated protein (BICRA) are linked to BICRA-related neurodevelopmental disorders. These disorders are characterized by developmental delay, intellectual disability, and dysmorphic facial features, along with behavioral abnormalities, poor growth, vision abnormalities, and feeding difficulties. We present the case of a three-year-old male diagnosed with autism spectrum disorder (ASD), developmental speech delay, and epilepsy. Whole exome sequencing with copy number variant (CNV) analysis revealed a heterozygous variant of uncertain significance in the BICRA gene (c.1246G>C, p.Ala416Pro). This case report aims to highlight a gene associated with BICRA-related neurodevelopmental disorders that is rarely described in ASD patients. Further research is crucial to explore the role of chromatin remodeling in the etiology and development of ASD.