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

  • Muhammad Imran Naseer King Abdulaziz University
  • Angham Abdulrahman Abdulkareem Biochemistry department, science faculty, King Abdulaziz University, 21589, Jeddah, Kingdom of Saudi Arabia.
  • Mohammed Mohammed Jan
  • Adeel G. Chaudhary
  • Mohammad H. Al-Qahtani
Keywords: HEXA gene, Tay-Sachs disease, Neurodegenerative disorder inherited, Saudi Family

Abstract

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.36.6.2579

How 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.36.6.2579

This 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.

Published
2020-08-20
How to Cite
Naseer, M., Abdulkareem, A. A., Jan, M. M., Chaudhary, A., & Al-Qahtani, M. (2020). Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family. Pakistan Journal of Medical Sciences, 36(6). https://doi.org/10.12669/pjms.36.6.2579

Most read articles by the same author(s)