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

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 abnor...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-08, Vol.16 (8), p.e66442
Main Authors: Gratacós Arenas, María A, Soler Portilla, Carolina, Carlo, Simón, Arciniegas, Norma J
Format: Article
Language:English
Subjects:
Autism
Case reports
Clinical significance
Convulsions & seizures
Epilepsy
Gene expression
Genetics
Glioma
Intellectual disabilities
Mutation
Neurodevelopmental disorders
Neurology
Pediatrics
Pregnancy
Proteins
Twin studies
Twins
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.66442