A novel $\it ECM1$ splice site mutation in lipoid proteinosis

Abstract

Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in $\it ECM1$. 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 $\it ECM1$ gene and summarize the current knowledge on $\it ECM1$ mutations and possible genotype-phenotype correlations