A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

Linda K Rey; Jürgen Kohlhase; Katrin Möllenhoff; Gabriele Dekomien; Jörg T Epplen; Sabine Hoffjan

doi:10.1159/000444615

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

Mol Syndromol. 2016 Apr;7(1):26-31. doi: 10.1159/000444615. Epub 2016 Mar 15.

Authors

Linda K Rey¹, Jürgen Kohlhase², Katrin Möllenhoff³, Gabriele Dekomien¹, Jörg T Epplen⁴, Sabine Hoffjan¹

Affiliations

¹ Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
² Departments of Center for Human Genetics, Freiburg, Germany.
³ Departments of Dermatology, Venereology and Allergology, Ruhr-University Bochum, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
⁴ 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.

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.

Keywords: ECM1; Genodermatosis; Lipoid proteinosis; Splice site mutation; Urbach-Wiethe syndrome.