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Mutation analysis of the Tuberous Sclerosis complex two gene in patients with autism.

Autism is a developmental disorder that occurs in children and may cause impairment, mental retardation, and seizures. Autism is a heterogeneous disorder since it is caused by abnormalities in several genes. Tuberous Sclerosis (TSC) has been found to be a candidate gene for autism by linkage study analysis and can be found on chromosomes 9q34 (TSC 1) and 16p 13 (TSC 2). An abnormality in these chromosomal locations causes Tuberous Scelorsis. Tuber in the brain, seizures, and mental retardation are what clinically link TSC and autism. The number and location of tubers in the brain affects the severity of the disease and how severe the seizures and mental retardation appear in the patient. Although seizures and mental retardation are important risk factors for TSC/autism, they are sometimes not expressed by certain particular patients. The results of my research were limited to three patient's DNA: T15, T9 (T10), and T19. A nonsense mutation was found in T15 that caused the patient (cm2460) to have TSC2/autism characteristics. The results for T15 have been published before, and further research needs to be completed to understand completely what caused the T9 (T10), and T19 patients to show TSC2/autism characteristics. South Carolina is currently working on treating autism patients through the South Carolina Project (SCAP).
Curtis Wright, Jane Ellis
Department of Biology
Presbyterian College
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Author:Wright, Curtis; Ellis, Jane
Publication:Bulletin of the South Carolina Academy of Science
Article Type:Brief Article
Geographic Code:1USA
Date:Jan 1, 2002
Words:222
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