title: Novel double deletions in the MECP2 gene in Tunisian Rett patient.
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.
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: D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D015518:Rett Syndrome / Q000235:genetics*; D017384:Sequence Deletion; D014416:Tunisia
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2