Novel double deletions in the MECP2 gene in Tunisian Rett patient

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• 作者：Nourhene Fendri-Kriaa^a ; ^{nourhene.fendri@gmail.com} ; Aida Rouissi^b ; Rania Ghorbel^a ; Emna Mkaouar-Rebai^a ; Neila Belguith^a ; Naziha Gouider-Khouja^b ; Faiza Fakhfakh^a ; ^{faiza.fakhfakh@gmail.com}
• 关键词：RTT ; Rett syndrome ; MECP2 ; methyl-CpG binding protein 2 ; PCR ; polymerase chain reaction
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：10 July, 2012
• 卷：502
• 期：2
• 页码：163-167
• 文件大小：886 K

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.