Association of Autism Spectrum Disorder in an Iranian Pedigree with a Novel Hereditary Mutation in SETD5

Abstract

Autism spectrum disorder has evolved from a rare childhood-onset disorder to a widely acknowledged, extensively researched, and heterogeneous lifelong condition. This study focuses on an Iranian pedigree affected by autism spectrum disorder. By employing whole-exome sequencing, we detected a novel heterozygous (c.3694T>A: p.Tyr1232Asn) in exon 22 (NM_001080517.3) of the SETD5 gene. The presence of this mutation was consistent with observed clinical features, confirming the genetic basis of autism spectrum disorder in the patient and his father. In contrast, the mother, with a normal genotype, did not exhibit the identified mutation. Genetic counseling implications are underscored by the shared heterozygous mutation in both, emphasizing the importance of incorporating genetic insights into psychological counseling. This integration can empower families with informed strategies to navigate the challenges associated with autism spectrum disorder, fostering resilience and tailored support.