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

Molecular Syndromology

Katrin Möllenhoff¹  Jürgen Kohlhase¹  Gabriele Dekomien¹  Jörg T. Epplen¹  Sabine Hoffjan¹  Linda K. Rey¹ 

[1] aDepartments of Human Genetics, University Witten/Herdecke, Witten, Germany

关键词: ECM1;    Genodermatosis;    Lipoid proteinosis;    Splice site mutation;    Urbach-Wiethe syndrome;   

DOI  :  10.1159/000444615

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown