Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
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.
Fendri-Kriaa
Nourhene
N
Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisia.
Mkaouar-Rebai
Emna
E
Moalla
Dorsaf
D
Belguith
Neila
N
Louhichi
Nacim
N
Zemni
Ramzi
R
Slama
Foued
F
Triki
Chahnez
C
Fakhfakh
Faiza
F
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
D020413:3' Untranslated Regions; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D022821:RNA Splice Sites