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Journal of Genetic Syndromes & Gene Therapy

ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy

Angelman Syndrome

Angelman Syndrome

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Angelman Syndrome

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Angelman syndrome is a genetic disorder that affects the nervous system.Characteristic features include happy demeanor,intelluctual disability,speech impairment,walking and balancing disorders.This arises when segment of the maternal chromosome 15 containing the gene UBE3 A is deleted or undergoes mutation.People inherit one copy of this gene from each parent and both the copies remain active in many of the body tissues.But due to genetic mutations, gene may become active or get deleted in some parts of the brain resulting in intellectual disability.

Angelman Syndrome may also be caused by a chromosomal rearrangement called a translocation or by a mutation or other defect in the region of DNA that controls the activation of UBE3A gene. In some people with angelman syndrome the loss of a gene called OCA2 is associated with light colored hair and fair skin. This gene is located on the segment of chromosome 15 that is deleted in people with this disorder. Most cases of this syndrome are not inherited.

Related Journals of Angelman Syndrome

Carcinogenesis, Genetic EngineeringEuropean Journal of Human Genetics, Brain & Development, Journal of Child Neurology, Cytogenetic and Genome Research, Neurobiology of Disease, American Journal on Mental Retardation, Angelman syndrome Journals

Angelman Syndrome

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