Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family

To study the causative variants in affected member of a Saudi family with Tay-Sachs disorder. This disorder includes paralysis, decreasing in attentiveness, seizures, blindness, motor deterioration progresses rapidly leading to a completely unresponsive state and a cherry-red spot visible on the eye. Whole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease. WES data analysis and Sanger sequencing validation, identifies a homozygous nonsense mutation c.1177C>T, p.Arg393Ter as a result in protein change. This mutation was also studied in 100 unrelated healthy controls. We detected homozygous mutation in gene that may lead to cause Tay-Sachs disorder. Moreover, explain the possibility that gene may play important role for multiple aspects of normal human neurodevelopment.