Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Autor: Mourad Mokni, Samir Boubaker, Cherine Charfeddine, Amel Ben Osman, Ahmed Rebai, Selma Kassar, Chiraz Bouchlaka, Sonia Abdelhak, Hela Zribi
Přispěvatelé: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Service de dermatologie, Hôpital La Rabta [Tunis], Study of Hereditary Keratinization Disorders Research Unit, Unit of Bioinformatics, Centre de Biotechnologie de Sfax (CBS), This work was supported by the Tunisian Ministry of Scientific and Technological Research and Development of competencies (Research Unit on ‘‘Molecular Investigation of Genetic Orphan Disorders’’ UR 26/04 and Research Unit on ‘‘Study of Hereditary Keratinization Disorders’’ UR 24/04).
Jazyk: angličtina
Rok vydání: 2006
Předmět:
Adult
Genetic Markers
Male
Tunisia
Genetic Linkage
[SDV]Life Sciences [q-bio]
Hyperkeratosis
Population
Genes
Recessive
Consanguinity
Biology
030207 dermatology & venereal diseases
03 medical and health sciences
Genetic Heterogeneity
0302 clinical medicine
Genetic linkage
Keratoderma
Palmoplantar
ARS (component B)
Genetics
medicine
Antigens
Ly
Humans
Family
linkage analysis
education
Gene
Genetics (clinical)
030304 developmental biology
0303 health sciences
education.field_of_study
genetic exclusion
[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
Genetic heterogeneity
Mediterranean Region
palmoplantar keratoderma
medicine.disease
Urokinase-Type Plasminogen Activator
3. Good health
Pedigree
Palmoplantar keratoderma
Phenotype
Genetic marker
Female
Mal de Meleda
Zdroj: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2006, 51 (10), pp.841-845. ⟨10.1007/s10038-006-0002-8⟩
ISSN: 1434-5161
1435-232X
DOI: 10.1007/s10038-006-0002-8⟩
Popis: International audience; Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene.
Databáze: OpenAIRE
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