Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis

Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in skin. Whole-exome sequencing (WES) was used to investigate two Chinese siblings with suggestive clinical features of LP. They shared one known (c.960G>A) and one novel (c.1081G>T) pathogenic variant in ECM1 gene, inherited from their unaffected parents. The novel mutation (c.1081G>T) led to a termination codon at position 361 and caused nonsense-mediated mRNA decay and lost the function. Our finding expands the genetic etiology spectrum of LP.

Automated summary

Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in the ECM1 gene. Two Chinese siblings with LP-like symptoms were found to have one known and one novel pathogenic variant in ECM1 gene, inherited from their unaffected parents. The novel mutation caused mRNA decay and loss of function. This finding adds to the understanding of the genetic etiology of LP.