A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations

Abstract

Lipoid proteinosis (LP) is an uncommon, autosomal recessive genetic disorder. Multigene panel testing was conducted to confirm the diagnosis of a sporadic family with suspected LP. In the proband, we identified two mutations of ECMI and provided genetic evidence for informed genetic counselling.

Keywords: ECM1 gene; lipoid; multigene panel testing; proteinosis.