title: A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
abstract: Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish consanguineous family carrying a novel homozygous splice site mutation in intron 8 of the ECM1 gene and summarize the current knowledge on ECM1 mutations and possible genotype-phenotype correlations.
authors.affiliation: Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Linda K
authors.initials: LK
authors.lastname: Rey
authors.affiliation: Departments of Center for Human Genetics, Freiburg, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Departments of Dermatology, Venereology and Allergology, Ruhr-University Bochum, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Katrin
authors.initials: K
authors.lastname: Möllenhoff
authors.affiliation: Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Dekomien
authors.affiliation: Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany; Departments of Faculty of Health, University Witten/Herdecke, Witten, Germany.
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.affiliation: Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
keywords: ECM1; Genodermatosis; Lipoid proteinosis; Splice site mutation; Urbach-Wiethe syndrome