A putative disease-associated haplotype within the SCN1A gene in Dravet syndromeNourhene Fendri-Kriaa
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax, Avenue Magida Boulila, Sfax, Tunisia
Biochem Biophys Res Commun 408:654-7. 2011
..The sequencing analyses of the SCN1A gene revealed the presence of a putative disease-associated haplotype in two patients affected with Dravet syndrome...
- A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene
Nourhene Fendri-Kriaa
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax, Tunisia
Biochem Biophys Res Commun 409:270-4. 2011
..The p.R255X mutation is located in TRD-NLS domain (transcription repression domain-nuclear localization signal) of MeCP2 protein...
- Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation
Nourhene Fendri-Kriaa
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Sfax, Tunisia
J Child Neurol 25:1042-6. 2010
..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...
- Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene
Emna Mkaouar-Rebai
Human Molecular Genetic Laboratory, Faculty of Medicine of Sfax, Sfax, Tunisia
Biosci Rep 30:405-11. 2010
..5% (11/14). We also detected known polymorphisms and sic novel mitochondrial variants. The present study confirmed that the mitochondrial 12S rRNA gene is a hot spot for mutations associated with hearing impairment...
- Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect
Nacim Louhichi
Human Molecular Genetic Laboratory, Faculty of Medicine of Sfax, Avenue Magida Boulila, 3029 Sfax, Tunisia
Ann Hematol 89:499-504. 2010
..The identification of the founder mutation and polymorphisms allowed a genetic counseling in relatives of these families, and the antenatal diagnosis is now available...
- Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies
Ikhlass Hadj Salem
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Sfax, Tunisia
Biosci Rep 31:125-35. 2011
..Our results indicate that mRNA analysis is necessary to clarify the primary effect of genomic mutations on splicing efficiency that alters mRNA processing and expression level...
- A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
Imen Chamkha
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax, Tunisia
Biochem Biophys Res Commun 404:504-10. 2011
..These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy...
- A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome
Nourhene Fendri-Kriaa
Unité de Neuropédiatrie de Sfax, Faculte de Medecine de Sfax, Sfax, Tunisia
Genet Test Mol Biomarkers 13:109-13. 2009
..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...
