title: Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.
abstract: Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6 to 18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. In the present study, we performed a mutational analysis of the MECP2 gene in 2 typical Rett syndrome patients and in 1 atypical Rett syndrome girl. The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia. nourhene.fendri@gmail.com
authors.forename: Nourhene
authors.initials: N
authors.lastname: Fendri-Kriaa
authors.forename: Aida
authors.initials: A
authors.lastname: Rouissi
authors.forename: Rania
authors.initials: R
authors.lastname: Ghorbel
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Neila
authors.initials: N
authors.lastname: Belguith
authors.forename: Naziha
authors.initials: N
authors.lastname: Gouider-Khouja
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D002648:Child; D019295:Computational Biology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics*; D014416:Tunisia
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2