{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T23:10:03Z","timestamp":1751497803278,"version":"3.41.0"},"reference-count":16,"publisher":"Scientific Scholar","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,3]]},"abstract":"\n Background & objectives:<\/jats:title>\n 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<\/jats:italic> gene on 1q21.2 are responsible for this disease. This study was conducted to investigate the mutation spectrum of ECM1<\/jats:italic> gene in nine Iranian families having at least one LP patient diagnosed clinically.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n The entire ECM1<\/jats:italic> gene was screened using PCR and direct sequencing in nine Iranian families with 12 suspected LP patients who were referred to the clinic, along with their parents and siblings. Thirty healthy individuals were included as controls.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n In only one patient a homozygous G>A transition at nucleotide c.806 in exon 7 was detected. A G<\/jats:italic>>A substitution at nucleotide 1243 in exon 8 that changes glycine (G<\/jats:underline>GT) to serine (A<\/jats:underline>GT) was observed in most of our patients. Furthermore, in one patient there was a change in the sequence of intron 8, the A>T transition in nucleotide 4307. In addition, in two cases (one patient and one healthy mother with affected child) there was a C (4249) deletion in intron 8.<\/jats:p>\n <\/jats:sec>\n \n Interpretation & conclusions:<\/jats:title>\n Our results indicate that although mutation in ECM<\/jats:italic>1gene is responsible for lipoid proteinosis, it is likely that this is not the only gene causing this disease and probably other genes may be involved in the pathogenesis of the LP disease.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/0971-5916.182620","type":"journal-article","created":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T12:53:28Z","timestamp":1464267208000},"page":"303-307","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis"],"prefix":"10.25259","volume":"143","author":[{"given":"Farzad","family":"Izadi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frouzandeh","family":"Mahjoubi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Farhadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Bidmeshkipour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Moein","family":"Tavakoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Samanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","reference":[{"key":"R1-9-20241212","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF02158983","article-title":"Lipoidosis cutis and mucosae","volume":"273","author":"Urbach","year":"1929","journal-title":"Virchows Arch Pathol Anat Physiol"},{"key":"R2-9-20241212","first-page":"220","article-title":"Lipoid proteinosis: clinical, histologic, and ultrastructural investigations","volume":"56","author":"Muda","year":"1995","journal-title":"Cutis"},{"key":"R3-9-20241212","first-page":"6","article-title":"Lipoid proteinosis in a child with recurrent respiratory infection","volume":"3","author":"Kumar","year":"2009","journal-title":"EJ Indian Soc Teledermatol"},{"key":"R4-9-20241212","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1258\/002221502760238082","article-title":"Lipoid proteinosis of the larynx","volume":"116","author":"Oz","year":"2002","journal-title":"J Laryngol Otol"},{"key":"R5-9-20241212","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/hmg\/11.7.833","article-title":"Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1gene (ECM1)","volume":"11","author":"Hamada","year":"2001","journal-title":"Hum Mol Genet"},{"key":"R6-9-20241212","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1096\/fsb2fj990934com","article-title":"Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells","volume":"15","author":"Han","year":"2001","journal-title":"FASEB J"},{"key":"R7-9-20241212","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/j.1365-2133.2006.07292.x","article-title":"New compound heterozygous mutations in a Chinese family with lipoid proteinosis","volume":"155","author":"Wang","year":"2006","journal-title":"Br J Dermatol"},{"key":"R8-9-20241212","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1046\/j.1523-1747.2003.12073.x","article-title":"Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation","volume":"120","author":"Hamada","year":"2003","journal-title":"J Invest Dermatol"},{"key":"R9-9-20241212","doi-asserted-by":"crossref","first-page":"3955","DOI":"10.4238\/2012.November.14.2","article-title":"A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient","volume":"11","author":"Izadi","year":"2012","journal-title":"Genet Mol Res"},{"key":"R10-9-20241212","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1006\/geno.1997.4918","article-title":"The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization","volume":"45","author":"Smits","year":"1997","journal-title":"Genomics"},{"key":"R11-9-20241212","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/j.1365-2133.2004.06076.x","article-title":"Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa","volume":"151","author":"Van Hougenhouck-Tulleken","year":"2004","journal-title":"Br J Dermatol"},{"key":"R12-9-20241212","doi-asserted-by":"crossref","first-page":"528","DOI":"10.2340\/00015555-0673","article-title":"Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation","volume":"89","author":"Horev","year":"2009","journal-title":"Acta Derm Venereol"},{"key":"R13-9-20241212","doi-asserted-by":"crossref","first-page":"10825","DOI":"10.5897\/AJB11.211","article-title":"Single nucleotide substitution mutations and polymorphisms in ECM1 gene in lipoid proteinosis in siblings of a Pakistani family","volume":"10","author":"Shahid","year":"2011","journal-title":"Afr J Biotechnol"},{"key":"R14-9-20241212","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1046\/j.1365-2230.2003.01341.x","article-title":"Molecular basis of lipoid proteinosis in a Libyan family","volume":"28","author":"Chan","year":"2003","journal-title":"Clin Exp Dermatol"},{"key":"R15-9-20241212","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1111\/j.1346-8138.2004.tb00593.x","article-title":"Molecular basis of lipoid proteinosis in two Indian siblings","volume":"31","author":"Chan","year":"2004","journal-title":"J Dermatol"},{"key":"R16-9-20241212","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1111\/j.1600-0625.2007.00608.x","article-title":"The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1","volume":"16","author":"Chan","year":"2007","journal-title":"Exp Dermatol"}],"container-title":["Indian Journal of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/02223309-201643030-00009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T22:57:17Z","timestamp":1751497037000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijmr.org.in\/extracellular-matrix-protein-1-gene-ecm1-mutations-in-nine-iranian-families-with-lipoid-proteinosis\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.4103\/0971-5916.182620","relation":{},"ISSN":["0971-5916"],"issn-type":[{"type":"print","value":"0971-5916"}],"subject":[],"published":{"date-parts":[[2016,3]]}}}