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Article
Open AccessA genome wide SNP genoty** study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
Breast cancer is the most common cancer in women worldwide. Around 50% of breast cancer familial risk has been so far explained by known susceptibility alleles with variable levels of risk and prevalence. The ...
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Article
Open AccessClinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pig...
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Article
Open AccessFamily specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics hav...
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Article
Open AccessLactase persistence in Tunisia as a result of admixture with other Mediterranean populations
The ability to digest lactose after weaning, namely, lactase persistence (LP), is encoded by polymorphisms in the MCM6 gene and varies widely in frequency among different human populations. Although, evolution of...
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Article
Open AccessUsing KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...
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Article
Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss
Origins of all hearing impairment forms may be divided into genetic mutations and acquired influence. Both carry damage to the inner ear structure resulting in a mild to profound dysfunction of the auditory sy...
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Article
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population
Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy (MLD). Low ASA activities have also been reported i...
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Article
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
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Article
Association Analysis of IGF2BP2, KCNJ11, and CDKAL1 Polymorphisms with Type 2 Diabetes Mellitus in a Moroccan Population: A Case–Control Study and Meta-analysis
Associations with type 2 diabetes mellitus have been identified for variants CDKAL1 rs7756992, KCNJ11 rs5219, and IGF2BP2 rs4402960 in different populations. In a case–control study of 250 unrelated Moroccan diab...
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Article
Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia
Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic e...
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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is c...
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Consanguinity, endogamy, and genetic disorders in Tunisia
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Article
c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum
Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) ar...
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Article
Open AccessGenome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians
Genome-wide Association Studies (GWAS) revealed novel genetic markers for breast cancer susceptibility. But little is known about the risk factors and molecular events associated with breast cancer in Arab Pop...
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Open AccessFounder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...
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Screening of three Mediterranean phenylketonuria mutations in Tunisian families
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Open AccessAdult gaucher disease in southern Tunisia: report of three cases
Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually di...
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A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation
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Article
Maternal Effect and Familial Aggregation in a Type 2 Diabetic Moroccan Population
The aim of this study is to evaluate the degree of familial aggregation of type 2 diabetes mellitus in Morocco and to investigate transmission patterns of the disease and their relationships with patients’ cli...
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Article
Systems medicine and integrated care to combat chronic noncommunicable diseases
We propose an innovative, integrated, cost-effective health system to combat major non-communicable diseases (NCDs), including cardiovascular, chronic respiratory, metabolic, rheumatologic and neurologic disor...
