Phenotype Dependent Segregation of a Novel EPS8 Variant for Hearing Loss and an HPDL Variant for Neurodevelopmental Disorders in a Complex Consanguineous Family
Bassam Adnan Jamalalail, Ahmed Khalifa, Bipin Balan, Shuhd Bineshaq, Dia Advani, Hanan Abdelhalim ElSokary, Dasuki Kondaramage, Suhana Shiyas, Nelson C. Soares, Shehzad Hanif, Samuel Tharakan, Zeinab Mohamdi, Mohammad Aburaidah, Sherin Kuttiankandy, Alawi A.A. Alsheikh-Ali, , Mohammed Uddin
The paper identifies two pathogenic variants in a consanguineous family, one causing hearing loss and the other neurodevelopmental disorder, through genomic and transcriptomic analysis.
bioRxiv · Jul 14, 2026 · PreprintGenetics