Novel Role of DRP2 in Autism Spectrum Disorder Revealed in Groundbreaking Research

Researchers from Istanbul Medipol University have made a significant breakthrough in understanding the genetic basis of autism spectrum disorder (ASD). In a study published in Clinical Medicine Insights: Case Reports, the team identified a novel role of the DRP2 gene in ASD, expanding its phenotypic spectrum beyond neuropathy. The findings highlight the importance of genetic counseling in consanguineous populations, where risks extend beyond neuropathy to include broader neurodevelopmental outcomes. The research presents two pediatric cases from related Turkish families carrying a novel hemizygous DRP2 stop-gain mutation, which was found to be likely pathogenic.

Key Takeaways:

• The study highlights the complex genetic basis of ASD, which can be influenced by rare X-linked variants, particularly in consanguineous families.
• The researchers identified a novel hemizygous DRP2 stop-gain mutation (p.Q232X) in two pediatric cases from related Turkish families, which was classified as likely pathogenic.
• The cases presented developmental delay, hyperactivity, bilateral cryptorchidism, and recurrent otitis media with hearing loss, as well as ASD, macrocephaly, hypotonia, and chronic otitis media with conductive hearing loss.
• Multidisciplinary management including behavioral, speech, occupational, and physical therapies, as well as tympanostomy and orchiopexy, showed improved communication, motor function, and hearing, with stable neuropathy in Case 1.
• The research underscores the need for further cases to define genotype-phenotype heterogeneity and highlights the importance of genetic counseling in consanguineous populations.

Statistics:

• 2 pediatric cases from related Turkish families were studied, both carrying the novel DRP2 mutation (p.Q232X).
• The mutation was identified as likely pathogenic through whole-exome sequencing.
• The study highlights the importance of consanguineous marriage, which increases the risk of genetic disorders in offspring.
• The researchers report improved communication, motor function, and hearing in Case 1 with longitudinal follow-up.

Sources:

• DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients. Clinical Medicine Insights: Case Reports, 2025,18.
• Clinical Medicine Insights: Case Reports - http://insights.sagepub.com/clinical-medicine-insights-case-reports-j9
• SAGE Publishing: https://doi-org.sdpl.idm.oclc.org/10.1177/11795476251383753
• Hajira Karim, Istanbul Medipol University, International School of Medicine, Turkey.