Ataxia-telangiectasia-like syndrome

Definition

Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as a double-strand break sensor and recruits ATM to broken DNA molecules. The clinical features include the progressive cerebellar ataxia, and they are very similar to those of Ataxia-telangiectasia (A-T). In contrast to A-T, ATLD patients don't show telangiectasia and immune deficiency. Recently, genetic heterogeneity of ATLD, caused by mutation in the PCNA gene, has been reported.

References:

[1]. A M R Taylor, et al. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1219-25. [Content Brief]

[2]. Domenico Delia, et al. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Hum Mol Genet. 2004 Sep 15;13(18):2155-63. [Content Brief]

[3]. Emma L Baple, et al. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest. 2014 Jul;124(7):3137-46. [Content Brief]

[4]. G S Stewart, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999 Dec 10;99(6):577-87. [Content Brief]

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