MECP2 基因内的新型双重缺失与突尼斯 Rett 患者相关。

Novel double deletions in the MECP2 gene in Tunisian Rett patient.

机构信息

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.

出版信息

Gene. 2012 Jul 10;502(2):163-7. doi: 10.1016/j.gene.2012.04.028. Epub 2012 Apr 25.

DOI:10.1016/j.gene.2012.04.028

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively girls. Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. RTT is currently considered as monogenic X-linked dominant disorder due to mutations in the MECP2 gene, encoding the methyl-CpG binding protein 2. The aim of this study was to perform a mutational analysis of the MECP2 gene in a classical Rett patient.The results showed the presence of a novel point mutation c.C1142T (p.P381L) and two deletions at the heterozygous state: a novel deletion c.1075delTTC (p.S359) and a known one c.1157del44 (p.L386Q fs X2) in the C-terminal region of MeCP2.

摘要

雷特综合征（RTT）是一种严重的神经发育障碍，几乎仅发生于女性。雷特患者在生命的头 6-18 个月期间表现出明显正常的精神运动发育。此后，他们经历一个短暂的发育停滞期，随后语言和运动发育迅速退化。由于 MECP2 基因突变，雷特综合征目前被认为是单基因 X 连锁显性遗传疾病，该基因编码甲基化CpG 结合蛋白 2。本研究旨在对经典雷特患者的 MECP2 基因进行突变分析。结果显示存在一个新的点突变 c.C1142T（p.P381L）和两个杂合状态下的缺失：一个新的缺失 c.1075delTTC（p.S359）和一个已知的缺失 c.1157del44（p.L386Q fs X2），位于 MeCP2 的 C 末端区域。