title: Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
abstract: Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3(')UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C>G in the 3(')UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisia.
authors.forename: Nourhene
authors.initials: N
authors.lastname: Fendri-Kriaa
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Dorsaf
authors.initials: D
authors.lastname: Moalla
authors.forename: Neila
authors.initials: N
authors.lastname: Belguith
authors.forename: Nacim
authors.initials: N
authors.lastname: Louhichi
authors.forename: Ramzi
authors.initials: R
authors.lastname: Zemni
authors.forename: Foued
authors.initials: F
authors.lastname: Slama
authors.forename: Chahnez
authors.initials: C
authors.lastname: Triki
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D001483:Base Sequence; D002648:Child; D019295:Computational Biology / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D026723:Polyadenylation / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D015518:Rett Syndrome / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D012689:Sequence Homology, Nucleic Acid; D014416:Tunisia
chemical_list: D020413:3' Untranslated Regions; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D022821:RNA Splice Sites