Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family | [Pakistan Journal of Medical Sciences • 2020]

Author(s):

1. Muhammad Imran Naseer: Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology,Faculty of Applied Medical Sciences,King Abdulaziz University, Jeddah, Saudi Arabia.

2. Angham Abdulrahman Abdulkareem: Biochemistry Department, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.

3. Mohammed Mohammed Jan: Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Jeddah, Saudi Arabia.

4. Adeel G. Chaudhary: Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences,Center for Innovation in Personalized Medicine,King Abdulaziz University Hospital, Jeddah Saudi Arabia.

5. Mohammad H. Al-Qahtani: Center of Excellence in Genomic Medicine Research,Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

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.

Page(s): 1425-1428

DOI: DOI not available

Published: Journal: Pakistan Journal of Medical Sciences, Volume: 36, Issue: 6, Year: 2020

Keywords:

Neurodegenerative disorder inherited , TaySachs disease , HEXA gene

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