Abstract: [Abstract]　Objective To study mutations in the extracellular matrix protein 1 （ECM1）gene in a Chinese family with lipoid Proteinosis (LP). Methods: All exons of ECM1 gene were analyzed in each person of the families with PCR-DNA sequencing. DNA samples from 100 unrelated, normally pigmented adult individuals were also included as control. Results: Both affected siblings were shown to have a homozygous single nucleotide substitution, c.658T>G, in exon 6, which converts cysteine to glycine, designated p.C220G. Both parents were heterozygous for this mutation, which was not detected in 100 unrelated healthy controls. Conclusion: The mutation C220G is the underlying cause of Lipoid Proteinosis in this family, not due to common polymorphism.

Key words: Mutation