Open AccessExtracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis
Author(s) -
Farzad Izadi,
Frouzandeh Mahjoubi,
Mohammad Farhadi,
Samira Kalayinia,
Ali Bidmeshkipour,
Mohammad Moein Tavakoli,
Sara Samanian
Publication year - 2016
Publication title -
indian journal of medical research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.578
H-Index - 87
ISSN - 0971-5916
DOI - 10.4103/0971-5916.182620
Subject(s) - exon , gene , intron , genetics , mutation , medicine , transition (genetics) , single nucleotide polymorphism , gene mutation , biology , pathology , genotype
Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis). Mutations in the ECM1 gene on 1q21.2 are responsible for this disease. This study was conducted to investigate the mutation spectrum of ECM1 gene in nine Iranian families having at least one LP patient diagnosed clinically.