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ATAXIA-TELANGIECTASIA
(OMIM ID: 208900)

Known also as: Louis-Bar syndrome; AT COMPLEMENTATION GROUP A (ATA); AT COMPLEMENTATION GROUP C (ATC); AT COMPLEMENTATION GROUP D (ATD); AT COMPLEMENTATION GROUP E (ATE); ATAXIA-TELANGIECTASIA VARIANT


Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene.


DNA repair proteins related with ATAXIA-TELANGIECTASIA (208900) disease:
Last modification of this entry: Oct. 11, 2010.

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