Open AccessA Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature
Author(s) -
Linda K. Rey,
Jürgen Kohlhase,
Katrin Möllenhoff,
Gabriele Dekomien,
Jörg T. Epplen,
Sabine Hoffjan
Publication year - 2016
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000444615
Subject(s) - missense mutation , splice site mutation , genodermatosis , splice , genetics , nonsense mutation , nonsense , mutation , medicine , exon , intron , exon skipping , rna splicing , phenotype , genotype , gene , biology , alternative splicing , rna
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.