Abstract:

Objective: To detect the mutations in the extracellular matrix protein 1 (ECM1) gene in two families with lipoid proteinosis (LP). Methods: Genomic DNA was extracted from peripheral blood of the propositus and the mother in family one and of the propositus, wife, parents and son in family two. The family numbers were all normal except propositus in two families. All the exons of ECM1 were amplified by PCR and the products were purified and directly sequenced to detect mutations by Sanger sequencing. Results: A homozygotic mutation of c.960G>A in exon 7 in the propositus and the heterozygous mutation of c.960G>A in the mather of family 1 was identified. One insertion mutation of c.142insC in exon 3 in the propositus and the heterozygous mutation of c.960G>A in the propositus of family 2 were identified. Conclusion: There exist genetic heterogenicity of LP

Key words: lipoid proteinosis')">

lipoid proteinosis, extracellular matrix protein 1, mutation