Novel double deletions in the MECP2 gene in Tunisian Rett patient

• Published in: Gene 2012-07, Vol.502 (2), p.163-167
• Main Authors: Fendri-Kriaa, Nourhene, Rouissi, Aida, Ghorbel, Rania, Mkaouar-Rebai, Emna, Belguith, Neila, Gouider-Khouja, Naziha, Fakhfakh, Faiza
• Format: Article
• Language: English
• Subjects: Base Sequence; binding proteins; C-terminal region; c.1075delTTC; c.1157del44; c.C1142T; Case-Control Studies; Developmental stages; DNA Mutational Analysis - methods; Female; Gene deletion; genes; girls; Hereditary diseases; heterozygosity; Humans; Language; MECP2 gene; MeCP2 protein; Methyl-CpG binding protein; Methyl-CpG-Binding Protein 2 - genetics; Middle Aged; Molecular Sequence Data; Neurodevelopmental disorders; patients; Point Mutation; psychomotor development; Rett syndrome; Rett Syndrome - genetics; Sequence Deletion; Tunisia; X chromosome
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2012.04.028

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively girls. Rett patients present an apparently normal psychomotor development during the first 6–18months 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. ► A mutational analysis of MECP2 gene was performed in Tunisian Rett syndrome patient. ► The results showed the presence of two deletions and a variation in the same patient. ► A novel deletion c.1075delTTC and the c.1157del44 were identified in MeCP2 protein.