Review Article
The Role of Genetic Mutations in Genes TSC1 & TSC2 in Bourneville Syndrome
Shahin Asadi*, Soheil Nemati Arzeloo and Mahsa Jamali
Director of the Division of Medical Genetics and Molecular Research, Medical Genetics, Tabriz, Iran
Shahin Asadi, Director of the Division of Medical Genetics and Molecular Research, Tabriz, Iran.
Received Date:August 05, 2019; Published Date:August 22, 2019
Abstract
Bourneville Syndrome, also known as Tuberous Sclerosis Complex Disorder, is a genetic disorder characterized by the growth of numerous non-cancerous tumors in many parts of the body. Bourneville Syndrome often affects the brain, which causes seizures, behavioral problems such as hyperactivity and aggression, and mental disorders or learning problems. Bourneville syndrome is caused by a mutation of the TSC1 gene located on the long arm of chromosome 9 at 9q34.13 or the TSC2 gene at the short arm of chromosome 16 at 16p13.3.
Keywords: Bourneville syndrome; Tuberous sclerosis complex disorder; TSC1 & TSC2 genes; Genetics Disorder
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Shahin Asadi, Soheil Nemati Arzeloo, Mahsa Jamali. The Role of Genetic Mutations in Genes TSC1 & TSC2 in Bourneville Syndrome. Arch Biomed Eng & Biotechnol. 2(4): 2019. ABEB.MS.ID.000541.
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