Identification and characterization of novel sequence variationsin MECP2 gene in Rett syndrome patients
Monnerat, Leila Schuindt; Moreira, Aline dos Santos; ALves, Maria Carolina Viana; Bonvicino, Cibele Rodrigues; Vargas, Fernando Regla.
Brain Dev
; 32(10): 843-848, nov., 2010. ilus, graf, tab
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| TXTC | ID: txt-23795
Rett syndrome (RS) is a neurodevelopmental disorder caused by mutations in MECP2 gene. Exons 2, 3, and 4, in addition tointronic and 30UTR adjacent regions, were sequenced in 80 patients with RS. Twenty-nine sequence variations were detected in 49 patients, 34 (69.4%) patients with the classic form of RS, and 15 (30.6%) patients with atypical forms of RS. Thirteen of the 29detected mutations represent novel sequence variations. Missense mutation T158M was the most commonly observed mutation,detected in nine patients (11.2%). Six hotspot pathogenic mutations (R133C, T158M, R168X, R255X, R270X, and R294X) were responsible for the phenotype in 26/80 patients (32.5%).(AU)
Biblioteca responsable:
BR440.1
Ubicación: BR440.1
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