MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features

Abstract

An MECP2 mutation can be found in almost every patient with classical Rett syndrome. More patients need to be analyzed in order to clarify the mutation prevalence in patients with atypical Rett syndrome and in patients with mental retardation.

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #443 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/443.pdf

“…In our 17 cases, 6 of the common mutations including 3 missense mutations (2 cases of R133C, 4 cases of T158M, and 1 case of R306C) and 3 nonsense mutations (5 cases of R255X, 4 cases of R270X, and 1 case of R294X) were detected. Each of the three single nucleotide transversions generating C to G, resulting in Y141X, D156E and P225R, respectively, was also detected in this study (Table 1), as some C to G transversions have been rarely reported (Dragich et al2000;Buyse et al 2000;Auranen et al 2001). Furthermore, five novel mutations, one insertion and four deletions including one double deletion mutant, were identified (Table 1 and Fig.…”

“…Therefore, the disease-causing mutations were detected in 92.5 % (25/27) of patients with classical and variant RTT in this study, which is higher than the estimate (80 -84 %) reported previously (Dragich et al 2000;Buyse et al 2000), and similar to the recent study (Auranen et al 2001). Although we examined 10 heterogeneous mentally retarded patients with Rett-like features including one male patient to elucidate the phenotypical manifestations of MECP2 mutations, no mutation was detected in the coding region of MECP2 as expected.…”

“…Numerous mutation screening studies have found various mutations (missense, nonsense, and frame-shifts) in the coding region of MECP2 in up to 80 % of patients with RTT Wan et al 1999;Amano et al 2000;Bienvenu et al 2000;Buyse et al 2000;Cheadle et al 2000;Hampson et al 2000;Huppke et al 2000;Kim and Cook 2000;Obata et al 2000;Xiang et al 2000). In the recent study by Auranen et al (2001), MECP2 mutations were identified in 100% of 39 classical Rett cases. The identification of mutations in MECP2 confirmed initial hypotheses that RTT is an X-linked dominant disorder and that it usually results from new mutations in the relevant gene.…”

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

“…2 In 1999, it was discovered that a significant proportion of RTT cases are caused by mutations in the MECP2 gene. 3 However, detection of mutations has been very variable from one series to another, ranging from 19% 3 to 100% positive cases, 4 presumably due to the profile of the populations studied.…”

A expressão neurológica e o diagnóstico genético nas síndromes de Angelman, de Rett e do X-Frágil

“…Até recentemente, sua etiologia era desconhecida, e o diagnóstico baseava-se apenas em critérios clínicos. Em 1999, a identificação da mutação no gene MECP2 (methyl-CpG-binding protein 2) em uma grande proporção de pacientes com diagnóstico clínico de SR confirmou a base genética dessa síndrome 2,3 .…”