title: Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
abstract: Epidermolysis bullosa (EB) encompasses a large group of inherited blistering skin disorders caused by mutations in at least 10 genes. Numerous studies, mainly performed in European and US families with EB, have revealed a number of characteristic epidemiological and genetic features, which form the basis for current diagnostic and counseling strategies. However, little is currently known about the molecular epidemiology of EB in Middle East populations. In the present study, we assessed 55 EB families for pathogenic sequence alterations in the 10 genes known to be associated with EB. Our results show unique EB subtype distribution and patterns of inheritance in our cohort. We also failed to detect recurrent mutations frequently encountered in Europe and the US, and did not consistently observe genotype-phenotype correlations formerly established in Western populations. Thus, the molecular epidemiology of EB in the Middle East is significantly different from that previously delineated in Europe and the US. Our data raise the possibility that similar differences may also be found in other genetically heterogeneous groups of disorders, and indicate the need for population-specific diagnostic and management approaches.
authors.affiliation: Department of Life Sciences, Bethlehem University, Palestinian Authority, Haifa, Israel.
authors.forename: Judeh
authors.initials: J
authors.lastname: Abu Sa'd
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Ellen
authors.initials: E
authors.lastname: Pfendner
authors.forename: Tzipora C
authors.initials: TC
authors.lastname: Falik-Zaccai
authors.forename: Mordechai
authors.initials: M
authors.lastname: Mizrachi-Koren
authors.forename: Stavit
authors.initials: S
authors.lastname: Shalev
authors.forename: Dani
authors.initials: D
authors.lastname: Ben Amitai
authors.forename: Annick
authors.initials: A
authors.lastname: Raas-Rothshild
authors.forename: Ayelet
authors.initials: A
authors.lastname: Adir-Shani
authors.forename: Zvi-Uri
authors.initials: ZU
authors.lastname: Borochowitz
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: Morad
authors.initials: M
authors.lastname: Khayat
authors.forename: Daniela
authors.initials: D
authors.lastname: Landau
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.forename: Moien
authors.initials: M
authors.lastname: Kanaan
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D044466:Asian People / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008877:Middle East / Q000453:epidemiology; D009154:Mutation