(2018) Mutation analysis of ECM1 gene in two related iranian patients affected by lipoid proteinosis. Acta Med Iran. pp. 474-477. ISSN 00446025 (ISSN)
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Mutation analysis of ECM1 gene in two related iranian patients affected by lipoid proteinosis.pdf Download (664kB) |
Abstract
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of skin scars. We studied two LP patients. Clinical and genetic examination and genetic counseling were carried out, and their family pedigree was drawn. Two different variants were found in exon 6 of ECM1 gene in both patients: a homozygous deletion of a nucleotide T at position 507 and a missense variant at nucleotide 389 which the first was a pathogenic mutation and the other one was a non-pathogenic variant. © 2018 Tehran University of Medical Sciences.
| Item Type: | Article |
|---|---|
| Keywords: | Extracellular matrix protein 1 gene Lipoid proteinosis Mutations Pathogenic and non-pathogenic extracellular matrix protein 1 nucleotide protein scleroprotein unclassified drug Article brain calcification case report child clinical article clinical assessment DNA denaturation DNA sequence ECM1 gene eyelid disease gene gene deletion gene mutation genetic association genetic counseling hoarseness homozygosity human Iranian (citizen) male missense mutation panic polymerase chain reaction preschool child skin fragility skinfold thickness tongue disease |
| Divisions: | |
| Page Range: | pp. 474-477 |
| Journal or Publication Title: | Acta Med Iran |
| Journal Index: | Scopus |
| Volume: | 56 |
| Number: | 7 |
| ISSN: | 00446025 (ISSN) |
| Depositing User: | مهندس مهدی شریفی |
| URI: | http://eprints.bmsu.ac.ir/id/eprint/719 |
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