1. Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations
- Author
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M. Kharfi, Alain Hovnanian, Lilia Romdhane, Mbarka Bchetnia, M.S. Boubaker, Daniele Castiglia, Salaheddine Marrakchi, A.S. Ben Brick, Hamida Turki, Nadia Laroussi, Rym Kefi, Hela Mesrati, Houyem Ouragini, Sonia Abdelhak, Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Département de Dermatologie, Hedi Chaker Hospital [Sfax], Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IRCCS), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Charles Nicolle [Rouen], This work was supported by the Tunisian Ministry of Higher Education and Scientific Research (Laboratory on ‘Biomedical Genomics and Oncogenetics’ LR11IPT05) and the Tunisian Ministry of Health., Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory ( LR11IPT05 ), Université Tunis El Manar ( UTM ) -Institut Pasteur de Tunis-Réseau International des Instituts Pasteur ( RIIP ), Hôpital Hedi Chaker, Istituto Dermopatico dell'Immacolata ( IRCCS ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université Tunis El Manar (UTM), and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
Male ,0301 basic medicine ,Tunisia ,[SDV]Life Sciences [q-bio] ,Mutation, Missense ,Scars ,Genes, Recessive ,Dermatology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Clinical heterogeneity ,Prevalence ,medicine ,Humans ,Missense mutation ,[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics ,Dominant dystrophic epidermolysis bullosa ,ComputingMilieux_MISCELLANEOUS ,Genes, Dominant ,Genetics ,[ SDV ] Life Sciences [q-bio] ,integumentary system ,business.industry ,Genodermatosis ,medicine.disease ,Epidermolysis Bullosa Dystrophica ,Pedigree ,Dystrophic epidermolysis bullosa ,030104 developmental biology ,Infectious Diseases ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Female ,medicine.symptom ,[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology ,business ,[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology - Abstract
Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterized by extensive fragility of the skin, which forms blisters and scars following a minimal friction or mechanical trauma.1 It is inherited as either autosomal recessive (RDEB) or dominant (DDEB) manner. DDEB is characterized by a wide range of clinical heterogeneity. Indeed, the blistering tendency can be relatively mild and limited to areas of considerable trauma, as in the DDEB-pretibial (DDEB-pt), or be more generalized, as in the DDEB-generalized (DDEBgen). 2 A peculiar form of DDEB-gen presents with albopapuloid lesions. DDEB is usually caused by missense mutations in the COL7A1 gene.
- Published
- 2014
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