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.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH
タイトル
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
