Molecular epidemiology of hereditary epidermolysis bullosa in a middle eastern population

Judeh Abu Sa'd, Margarita Indelman, Ellen Pfendner, Tzipora C. Falik-Zaccai, Mordechai Mizrachi-Koren, Stavit Shalev, Dani Ben Amitai, Annick Raas-Rothshild, Ayelet Adir-Shani, Zvi Uri Borochowitz, Ruth Gershoni-Baruch, Morad Khayat, Daniela Landau, Gabriele Richard, Reuven Bergman, Jouni Uitto, Moien Kanaan, Eli Sprecher

Research output: Contribution to journalArticlepeer-review

44 Scopus citations

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.

Original languageEnglish
Pages (from-to)777-781
Number of pages5
JournalJournal of Investigative Dermatology
Volume126
Issue number4
DOIs
StatePublished - 1 Jan 2006
Externally publishedYes

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