Abstract
Intellectual disability is characterized by the development of motor, cognitive, language, and social skills. It is a complex condition influenced by either environmental or genetic factors. In this study, we have utilized whole exome sequencing (WES) to identify the genetic causes of Intellectual disability in a consanguineous family from Peshawar, Khyber Pakhtunkhwa, Pakistan. Resultantly, we have identified a novel hemizygous missense variant c.1207T>A (p.S403T) in the SLC9A7 gene on X-chromosome. Consequently, through segregation analysis its X-linked inheritance pattern was validated, with affected members (II-3, II-4, II-5) exhibiting hemizygosity. Similarly, through structural analysis using 3D molecular modeling we have confirmed the potential conformational changes in the protein structure due to mutation c.1207T>A (p.S403T). These findings help us better understand the genetic causes of Intellectual Disabilities (ID) in consanguineous populations, which are crucial for early diagnosis and personalized therapeutic strategies.
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