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Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

Ben Brick Ahlem Sabrine, Laroussi Nadia, Mesrati Hela, Kefi Rym, Bchetnia Mbarka, Lasram Khaled, Ben Halim Nizar, Romdhane Lilia, Ouragini Houyem, Marrakchi Salaheddine, Boubaker Mohamed Samir, Meddeb Cherif Mounira, Castiglia Daniele, Hovnanian Alain, Abdelhak Sonia et Turki Hamida. (2014). Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia. Archives of Dermatological Research, 306, p. 405-411.

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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 epidermolysis bullosa (RDEB-SG)] subtype, which is inherited in an autosomal recessive manner. This subtype is most often due to COL7A1 mutations resulting in a premature termination codon on both alleles. We report here, the molecular investigation of 15 patients belonging to 14 nuclear families from the city of Sfax in Southern Tunisia, with clinical features of RDEB-SG complicated by squamous cell carcinoma in 3 patients. We identified two novel mutations, p.Val769LeufsX1 and p.Ala2297SerfsX91, in addition to one previously reported mutation (p.Arg2063Trp). The p.Val769LeufsX1 mutation was shared by 11 families and haplotype analysis indicated that it is a founder mutation. The p.Ala2297SerfsX91 mutation was a private mutation found in only one family. Together with the previously described recurrent mutations in Tunisia, screening for the founder p.Val769LeufsX1 mutation should provide a rapid molecular diagnosis tool for mutation screening in RDEB patients from Southern Tunisia and possibly from other Mediterranean populations sharing the same genetic background.

Type de document:Article publié dans une revue avec comité d'évaluation
Pages:p. 405-411
Version évaluée par les pairs:Oui
Identifiant unique:10.1007/s00403-013-1421-y
Sujets:Sciences de la santé > Sciences médicales > Dermatologie
Sciences de la santé > Sciences médicales > Génétique
Département, module, service et unité de recherche:Départements et modules > Département des sciences fondamentales
Mots-clés:Recessive dystrophic epidermolysis bullosa severe generalized, COL7A1, novel mutations, founder effect
Déposé le:30 juin 2021 19:32
Dernière modification:30 juin 2021 19:32
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