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

SUBMITTER: Naseer MI 

PROVIDER: S-EPMC7501024 | biostudies-literature | 2020 Sep-Oct

REPOSITORIES: biostudies-literature