• Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed Mohammed Jan, Adeel G Chaudhary, and Mohammad H Al-Qahtani.
• Muhammad Imran Naseer, Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
• Pak J Med Sci. 2020 Sep 1; 36 (6): 1425-1428.

ObjectiveTo 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.MethodsWhole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease.ResultsWES 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.ConclusionsWe detected homozygous mutation in HEXA gene that may lead to cause Tay-Sachs disorder. Moreover, explain the possibility that HEXA gene may play important role for multiple aspects of normal human neurodevelopment.Copyright: © Pakistan Journal of Medical Sciences.

4 keywords...

hide…