title: A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.
abstract: Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. Rett syndrome (RTT) is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (MECP2). The aim of this study was to search for mutations in MECP2 gene in two Tunisian patients affected with RTT. The results of mutation analysis revealed mutations in exon 4 of MECP2 gene in the two patients. In one patient we identified a new mutation consisting of a deletion of four bases (c.810-813delAAAG), which led to a frame shift and generated a premature stop codon (p.Lys271Arg fs X15) in transcriptional repression domain-nuclear localization signal (TRD-NLS) domain of MeCP2 protein. With regard to the second patient, a previously described transition (c.916C>T) that changed an arginine to a cysteine residue (p.R306C) in TRD domain of MeCP2 protein was revealed. In conclusion, a new and a known de novo mutation in MECP2 gene were revealed in two Tunisian patients affected with RTT.
authors.affiliation: Unité de Neuropédiatrie de Sfax, Faculté de Médecine de Sfax, Sfax, Tunisia.
authors.forename: Nourhène
authors.initials: N
authors.lastname: Fendri-Kriaa
authors.forename: Zaineb
authors.initials: Z
authors.lastname: Abdelkafi
authors.forename: Imen Ben
authors.initials: IB
authors.lastname: Rebeh
authors.forename: Fatma
authors.initials: F
authors.lastname: Kamoun
authors.forename: Chahnez
authors.initials: C
authors.lastname: Triki
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D015518:Rett Syndrome / Q000235:genetics*; D017384:Sequence Deletion; D014416:Tunisia
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2