Naseer Muhammad Imran, Abdulkareem Angham Abdulrahman, Jan Mohammed Mohammed, Chaudhary Adeel G, Al-Qahtani Mohammad H
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.
Angham Abdulrahman Abdulkareem, Biochemistry Department, Faculty of Science, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
Pak J Med Sci. 2020 Sep-Oct;36(6):1425-1428. doi: 10.12669/pjms.36.6.2579.
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.
Whole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease.
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.
We detected homozygous mutation in gene that may lead to cause Tay-Sachs disorder. Moreover, explain the possibility that gene may play important role for multiple aspects of normal human neurodevelopment.
研究一个患有泰-萨克斯病的沙特家庭中患病成员的致病变异。这种疾病包括瘫痪、注意力下降、癫痫发作、失明、运动功能迅速恶化导致完全无反应状态以及眼睛上可见樱桃红斑。
进行全外显子组测序（WES）和桑格测序以研究导致该疾病的变异。
通过WES数据分析和桑格测序验证，鉴定出一个纯合无义突变c.1177C>T，p.Arg393Ter，导致蛋白质改变。还在100名无关健康对照中研究了该突变。
我们在可能导致泰-萨克斯病的基因中检测到纯合突变。此外，解释了该基因可能在人类正常神经发育的多个方面发挥重要作用的可能性。
