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.
Highlights
Tay-Sachs disease (TSD) is a deadly genetic disorder; affect the nerve cells in the brain and spinal cord
Infants are affected most severely, by the age of 3-5 months. This disease characterized by symptoms such as paralysis, decreasing in attentiveness, seizures, blindness, decreased muscle strength and inability to move. This disease characterized by the increase of GM2 ganglioside in neurons at the beginning of the fatal life leading to toxicity
In this study we detected homozygous nonsense variant in HEXA gene C.1177C>T, p.Arg393Ter this would expect to lead to TSD
Summary
Tay-Sachs disease (TSD) is a deadly genetic disorder; affect the nerve cells in the brain and spinal cord. This disease is inherited in an autosomal recessive pattern. Infants are affected most severely, by the age of 3-5 months This disease characterized by symptoms such as paralysis, decreasing in attentiveness, seizures, blindness, decreased muscle strength and inability to move. This disease characterized by the increase of GM2 ganglioside in neurons at the beginning of the fatal life leading to toxicity. The ganglioside is stored in the form of concentrically arranged lamellae known as
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