Familial 2q13 Microduplication: A Unique Genetic Marker in Autism Spectrum Disorder

A 2q13 microduplication is a rare genetic anomaly involving the duplication of a DNA segment on chromosome 2. This region, encompassing approximately 65 genes, including MALL, NPHP1, and MTLN, has been implicated in autism spectrum disorder (ASD) and intellectual disability. ASD, affecting about 1% globally and up to 1.5% in India, is a complex neurodevelopmental disorder with significant genetic underpinnings. The duplication of 2q13 is linked to key neurodevelopmental processes. For instance, MALL is involved in cytoskeletal organization, NPHP1 in ciliary function, and MTLN in neuronal extracellular matrix interactions. Studies on diverse populations, such as in India, could reveal unique genetic variants, aiding personalized diagnostics and treatments. This study presents a case of familial 2q13 microduplication identified in a 4-year-old boy with ASD, speech delay, and hyperactivity. Comparative analysis with prior studies highlights the variability in phenotypic expression and neurodevelopmental impact of genetic variant. Unlike previous reports associating 2q13 duplications with schizophrenia and dysmorphic features, our findings emphasize its potential role in ASD and mild cognitive impairments. The broader relevance of 2q13 microduplications in neurodevelopmental disorders underscores the importance of studying diverse populations. This case adds to the existing literature by reinforcing the need for genetic screening in ASD and informing future research on genotype-phenotype correlations. Genetic screening can aid in diagnosing ASD, understanding familial contributions, and developing precise diagnostic and intervention strategies. Keywords: Pediatrics, Prenatal Diagnosis, Genetic Testing, Carrier Testing, Genetic Counseling