A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.

Lipoid proteinosis (LP) is a rare autosomal recessive disorder. Classical clinical features include warty skin infiltration, papules on the eyelids, skin scarring, as well as extracutaneous abnormalities such as hoarseness of the voice, epilepsy, and neuropsychiatric abnormalities. A defect in the ECM1 gene is responsible for this disease. A 21-year-old female patient from consanguineous parents (first cousins) was referred to our clinic with many symptoms of LP, such as hoarse voice from infancy, diffuse acneiform scars on her face, and hyperkeratosis on her knees and elbows. The entire ECM1 gene was screened using PCR and sequencing. A novel missense mutation was found in exon 7 of this patient. We report a novel missense mutation in exon 7 of the ECM1 gene found in an Iranian LP patient that causes a C269Y amino acid exchange.