雷特综合征患者中MECP2基因新序列变异的鉴定与特征分析。

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

作者信息

Monnerat Leila Schuindt, Moreira Aline Dos Santos, Alves Maria Carolina Viana, Bonvicino Cibele Rodrigues, Vargas Fernando Regla

机构信息

Programa de Genética, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.

出版信息

Brain Dev. 2010 Nov;32(10):843-8. doi: 10.1016/j.braindev.2009.11.007. Epub 2009 Dec 23.

DOI:10.1016/j.braindev.2009.11.007

PMID:20031356

Abstract

Rett syndrome (RS) is a neurodevelopmental disorder caused by mutations in MECP2 gene. Exons 2, 3, and 4, in addition to intronic and 3'UTR 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 29 detected 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%).

摘要

瑞特综合征（RS）是一种由MECP2基因突变引起的神经发育障碍。对80例RS患者的第2、3和4外显子以及内含子和3'UTR相邻区域进行了测序。在49例患者中检测到29个序列变异，其中34例（69.4%）为经典型RS患者，15例（30.6%）为非典型RS患者。检测到的29个突变中有13个代表新的序列变异。错义突变T158M是最常见的突变，在9例患者（11.2%）中检测到。6个热点致病突变（R133C、T158M、R168X、R255X、R270X和R294X）导致了80例患者中26例（32.5%）的表型。