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ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD
(OMIM ID: 604391)

Known also as: None


Gene map locus 11q21. The AT-like disorder is caused by the mutation in the MRE11A gene. Patients' cells exhibit chromosomal instability, increased sensitivity to ionizing radiation, defective induction of stress-activated signal transduction pathways and radioresistant DNA synthesis. It was linked with ataxia and ocular apraxia, with the absence of tumor develelopement or telangiectasia. The clinical features are very similar to AT's but with milder clinical course, and therefore it is hard to distinguish both diseases. Moreover, the molecular analysis needs to be very precise, as the ATM gene maps to the locus 11q23 and MRE11A gene maps to 11q21. Stewart et al. (1999) suggested that about 6% of AT cases might have the MRE11A mutations.


DNA repair proteins related with ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD (604391) disease:
References:

Authors Title Journal
Hernandez D, McConville CM, Stacey M, Woods CG, Brown MM, Shutt P, Rysiecki G, Taylor AM A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J Med Genet. Feb. 1, 1993
Klein C, Wenning GK, Quinn NP, Marsden CD. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord. March 1, 1996

Last modification of this entry: Oct. 11, 2010.

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