title: A novel missense  mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis  patient.
abstract: 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.
authors.affiliation: ENT-Head and Neck Research Center and Department, Hazrat Rasoul Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Izadi
authors.forename: F
authors.initials: F
authors.lastname: Mahjoubi
authors.forename: M
authors.initials: M
authors.lastname: Farhadi
authors.forename: M M
authors.initials: MM
authors.lastname: Tavakoli
authors.forename: S
authors.initials: S
authors.lastname: Samanian
mesh_terms: D017486:Acneiform Eruptions / Q000150:complications / Q000473:pathology; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007492:Iran; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins