A5059188879- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- DNA Repair Mechanisms
- Vestibular and auditory disorders
- Connexins and lens biology
- Glaucoma and retinal disorders
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Ear Surgery and Otitis Media
- Hypothalamic control of reproductive hormones
- Genomic variations and chromosomal abnormalities
- Porphyrin Metabolism and Disorders
- Retinal Diseases and Treatments
- RNA modifications and cancer
- Biomedical Research and Pathophysiology
- RNA and protein synthesis mechanisms
- Hemoglobinopathies and Related Disorders
- Escherichia coli research studies
- Retinal Development and Disorders
- Protein Tyrosine Phosphatases
- Congenital heart defects research
- Barrier Structure and Function Studies
- Corneal surgery and disorders
- Magnesium in Health and Disease
Fondation Jean Dausset-CEPH
2022
Génétique Médicale & Génomique Fonctionelle
2022
Institut Pasteur de Tunis
2010-2021
Tunis El Manar University
2013-2021
Tunis University
2014-2021
Inserm
2018-2020
Institut Pasteur
2013-2020
University of Monastir
2013-2019
Université Paris Cité
2018
Centre National de la Recherche Scientifique
2018
To identify the genetic cause of hypomyelinating leukodystrophy in 2 consanguineous families.Homozygosity mapping combined with whole-exome sequencing families was performed. Mutation consequences were determined by studying structural change protein and RNA analysis patients' fibroblasts.We identified a biallelic mutation gene coding for Pol III-specific subunit, POLR3K (c.121C>T/p.Arg41Trp), that cosegregates disease unrelated patients. Patients expressed neurologic extraneurologic signs...
Significance Presbycusis, or age-related hearing loss, is a major public health issue and the principal potentially modifiable risk factor for dementia. It caused by environmental factors largely uncharacterized genetic factors. We compared DNA sequences across genomic coding regions between familial sporadic cases of severe presbycusis controls with normal hearing. The frequency ultrarare predicted pathogenic variants in genes known to cause dominant early-onset forms deafness was...
Aging is a progressive time-dependent biological process affecting differentially individuals, who can sometimes present exceptional longevity. Epigenetic alterations are one of the hallmarks aging, which comprise epigenetic drift and clock at DNA methylation level. In study, we estimated methylation-based age (DNAmage) using four clocks based on small number CpGs in French centenarians semi-supercentenarians (CSSC, n=214) as well nonagenarians' centenarians' offspring (NCO, n=143) compared...
Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After exclusion GJB2 and other previously reported Tunisian deaf patients, we performed whole exome sequencing with severe profound deafness, from four unrelated consanguineous families. Four biallelic were identified three different genes: a nonsense mutation, c.208C>T (p.R70X), LRTOMT, missense c.5417T>C (p.L1806P), MYO15A two...
Objectives Consanguinity is common in Tunisia. However, little information exists on its impact recessive disorders. In this study, we evaluate the of consanguineous marriages occurrence some specific autosomal disorders and consider how other factors, such as population substructure mutation frequency, may be equal importance disease prevalence. Methods profiles were retrospectively studied among 425 Tunisian patients suffering from xeroderma pigmentosum, dystrophic epidermolysis bullosa,...
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, which USH1 the most severe form, congenital profound deafness, constant vestibular dysfunction, a prepubertal onset retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected apparently isolated, with reportedly normal...
Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution country have been influenced by demographic, economic social features especially consanguinity. In this article, we report on genetic disease association referred to comorbidity discuss factors influencing expressivity. Seventy-five associations reported among families. This could be individual or familial. 39 comorbid...
Abstract Several blood-based age prediction models have been developed using less than a dozen to more hundred DNA methylation biomarkers. Only one model (Z-P1) based on pyrosequencing has of single locus located in the ELOVL2 promoter, which is considered as best age-prediction biomarker. Although multi-locus generally present better performances compared single-locus model, they require and inter-laboratory variations impacting predictions. Here we 17,018 promoter from pooled data four...
Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim the clinical and genetic investigations XP-V Tunisian patients in order to develop simple tool for early diagnosis. We investigated 16 suspected XP belonging ten consanguineous families. Analysis POLH gene was performed linkage analysis, long range PCR, sequencing. Genetic analysis showed with founder haplotype all affected patients. Long PCR exon 9 11 3926 bp deletion compared control...
Primary congenital glaucoma (PCG) is responsible for a significant proportion of childhood blindness in Tunisia. Early prevention based on genetic diagnosis therefore required. This study sought to determine the frequency CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations 18 PCG patients, recruited from Central and Southern Genomic DNA was extracted coding regions were analysed by direct sequencing. A phylogenetic network haplotypes drawn using median-joining algorithm....
<b><i>Background/Aims:</i></b> The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at clinical genetic level one patient presenting an association AAAS CHH order identify causal mutations. <b><i>Methods:</i></b> Clinical endocrinal investigations were performed followed by mutational screening candidate genes....
<b><i>Aims:</i></b><i> Xeroderma pigmentosum</i> (XP, OMIM 278700-278780) is one of the most severe genodermatoses and relatively frequent in Tunisia. In absence any therapy to better manage disease, we aimed develop a molecular tool for DNA-based prenatal diagnosis. <b><i>Methods:</i></b> Six consanguineous Tunisian XP families (4 XP-A 2 XP-C) have benefited from Screening mutations was performed by direct sequencing, while...