title: Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.
abstract: 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.
authors.affiliation: "Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia.
authors.forename: Cherine
authors.initials: C
authors.lastname: Charfeddine
authors.affiliation: Service de Dermatologie, Hôpital de la Rabta de Tunis, Tunis, Tunisia.|"Study of Hereditary Keratinization Disorders" Research Unit, Hôpital La Rabta de Tunis, Tunis, Tunisia.
authors.forename: Mourad
authors.initials: M
authors.lastname: Mokni
authors.affiliation: "Study of Hereditary Keratinization Disorders" Research Unit, Hôpital La Rabta de Tunis, Tunis, Tunisia.|Service d'Anatomo-pathologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Selma
authors.initials: S
authors.lastname: Kassar
authors.affiliation: Service de Dermatologie, Hôpital de la Rabta de Tunis, Tunis, Tunisia.|"Study of Hereditary Keratinization Disorders" Research Unit, Hôpital La Rabta de Tunis, Tunis, Tunisia.
authors.forename: Hela
authors.initials: H
authors.lastname: Zribi
authors.affiliation: "Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia.
authors.forename: Chiraz
authors.initials: C
authors.lastname: Bouchlaka
authors.affiliation: Service d'Anatomo-pathologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Samir
authors.initials: S
authors.lastname: Boubaker
authors.affiliation: Service de Bioinformatique, Centre de Biotechnologie de Sfax, Sfax, Tunisia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Rebai
authors.affiliation: "Study of Hereditary Keratinization Disorders" Research Unit, Hôpital La Rabta de Tunis, Tunis, Tunisia.
authors.forename: Amel
authors.initials: A
authors.lastname: Ben Osman
authors.affiliation: "Molecular Investigation of Genetic Orphan Diseases" Research Unit (MIGOD), Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia. sonia.abdelhak@pasteur.rns.tn.
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
mesh_terms: D000328:Adult; D000950:Antigens, Ly / Q000235:genetics; D003241:Consanguinity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D019083:Mediterranean Region; D010375:Pedigree; D010641:Phenotype; D014416:Tunisia; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics
chemical_list: D000950:Antigens, Ly; D005819:Genetic Markers; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator