Novel double deletions in the MECP2 gene in Tunisian Rett patient

被引：4

作者：

Fendri-Kriaa, Nourhene ^{[1
]}

Rouissi, Aida ^{[2
]}

Ghorbel, Rania ^{[1
]}

Mkaouar-Rebai, Emna ^{[1
]}

Belguith, Neila ^{[1
]}

Gouider-Khouja, Naziha ^{[2
]}

Fakhfakh, Faiza ^{[1
]}

机构：

[1] Univ Sfax, Fac Med Sfax, Lab Genet Mol Humaine, Sfax 3029, Tunisia

[2] Inst Natl Neurol, Serv Neurol Enfant & Adolescent, Tunis 1007, Tunisia

来源：

GENE | 2012年 / 502卷 / 02期

关键词：

Rett syndrome; c.1075delTTC; c.1157del44; c.C1142T; MECP2; gene; C-terminal region; MUTATIONAL ANALYSIS; REARRANGEMENTS; PCR; BINDING;

D O I：

10.1016/j.gene.2012.04.028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：163 / 167

页数：5

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