TY - JOUR AU - Naseer, Muhammad Imran AU - Abdulkareem, Angham Abdulrahman AU - Jan, Mohammed Mohammed AU - Chaudhary, Adeel G. AU - Al-Qahtani, Mohammad H. PY - 2020/08/20 Y2 - 2024/03/29 TI - Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family JF - Pakistan Journal of Medical Sciences JA - Pak J Med Sci VL - 36 IS - 6 SE - Case Reports DO - 10.12669/pjms.36.6.2579 UR - https://www.pjms.org.pk/index.php/pjms/article/view/2579 SP - AB - Objective: 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.Methods: Whole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease.Results: 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.Conclusions: We 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.doi: https://doi.org/10.12669/pjms.36.6.2579How to cite this:Naseer MI, Abdulkareem AA, Jan MM, Chaudhary AG, Al-Qahtani MH. Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family. Pak J Med Sci. 2020;36(6):1425-1428.  doi: https://doi.org/10.12669/pjms.36.6.2579This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ER -