Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis

  • Saeid Morovvati Mail Human Genetic Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
  • Paniz Farshadyeganeh School of Basic Sciences, Tehran Medical Branch, Islamic Azad University, Tehran, Iran.
  • Mojdeh Hamidizadeh School of Basic Sciences, Islamic Azad University Tehran Medical Branch, Tehran, Iran.
  • Ziba Morovvati Department of Medical Genetics, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Gorgan, Iran.
  • Samaneh Doost Mohammadi Faculty of Basic Sciences, Islamic Azad University of Zanjan, Zanjan, Iran.
Extracellular matrix protein 1 gene, Lipoid proteinosis, Pathogenic and non-pathogenic, Mutations


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.


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How to Cite
Morovvati S, Farshadyeganeh P, Hamidizadeh M, Morovvati Z, Doost Mohammadi S. Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis. Acta Med Iran. 56(7):474-477.
Case Report(s)