Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation

Erdal, Mehmet Emin

The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (includingsk in) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lackinge xon 7 of this 10-exon gene (ECM1). To date, mutations that either a¡ect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six cases. However, lipoid proteinosis is clinically heterogeneous with affected individuals displayingdi¡ ering degrees of skin scarringand in¢ltration, variable signs of hoarseness and respiratory distress, and in some cases neurological abnormalities such as temporal lobe epilepsy. In this study, we sequenced ECM1 in 10 further unrelated patients with lipoid proteinosis to extend geno...