A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis

Lipoid proteinosis (LP), is caused by loss-of-function mutations in the gene for extracellular matrix protein 1 (ECM1), and has been mapped to chromosome 1q21. We report the case of a 49-year-old Chinese woman with LP, who presented with a hoarse voice, easily damaged skin with poor wound healing, lesions and scarring on the skin, and bead-like papules around the eyelids. On physical examination, yellowish deposits were seen on the soft palate, with thickening of the vocal cords. The coding region of ECM1 was amplified and sequenced, and a novel homozygous single-nucleotide substitution, c.1429T>C, was found in exon 9, which converts cysteine to arginine, designated p.C477R. This mutation was not founded in 100 unrelated normal genomic DNA sequences. In conclusion, this is a novel mutation in the ECM1 gene, which is the underlying cause of LP in this patient.