20 Result(s)
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Article
Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis
Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy...
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Article
New mutations of Darier disease in Tunisian patients
Darier’s disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (ce...
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Article
Open AccessCoexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the AR...
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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
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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Article
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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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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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
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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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
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
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
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its subtypes is based on genetic testing. Our aim was investig...
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Living Reference Work Entry In depth
Genodermatoses
Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and dis...
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Living Reference Work Entry In depth
Disorders of Keratinization
Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteris...
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Article
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a clinical invest...
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Reference Work Entry In depth
Disorders of Keratinization
Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteris...
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Reference Work Entry In depth
Genodermatoses
Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and dis...
-
Article
Open AccessAssociation of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis
Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess the association of HNF1A gene and haplotypes with the ...
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Article
Open AccessHeterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA dama...
