{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:51Z","timestamp":1787014191034,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T00:00:00Z","timestamp":1424908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T00:00:00Z","timestamp":1424908800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2015,3]]},"abstract":"Abstract<\/jats:title>\n \n Lipoid proteinosis (\n LP<\/jats:styled-content>\n ) is a rare autosomal recessive genodermatosis caused by loss\u2010of\u2010function mutations in the\n \n ECM<\/jats:styled-content>\n 1\n <\/jats:italic>\n gene, and previous studies have noted phenotypic variability. In this study, we examined 12 patients representing three Iranian families for clinical manifestations and genotyped them for mutations in\n \n ECM<\/jats:styled-content>\n 1\n <\/jats:italic>\n .\n LP<\/jats:styled-content>\n was diagnosed with characteristic mucocutaneous and neurologic manifestations. Five patients were also subjected to magnetic resonance imaging (\n MRI<\/jats:styled-content>\n )\/computed tomography (\n CT<\/jats:styled-content>\n ) scan of the central nervous system.\n DNA<\/jats:styled-content>\n was isolated from peripheral blood from patients and their clinically unaffected relatives, and mutations in\n \n ECM<\/jats:styled-content>\n 1\n <\/jats:italic>\n were sought by\n PCR<\/jats:styled-content>\n \u2010based amplification of all exons and flanking intronic sequences, followed by bidirectional Sanger sequencing. Significant phenotypic variability in this multisystem disorder, including presence of convulsions and epilepsy in about half of the patients was noted. In most cases, this was associated with calcifications in the brain detected by\n MRI<\/jats:styled-content>\n \/\n CT<\/jats:styled-content>\n scans. Genotyping of the affected individuals in three families from the central region of Iran revealed presence of homozygous c.507delT mutation in\n \n ECM<\/jats:styled-content>\n 1\n <\/jats:italic>\n , reflecting the observed consanguinity in these families. This large cohort revealed extensive phenotypic variability in individuals with the same mutation in\n \n ECM<\/jats:styled-content>\n 1\n <\/jats:italic>\n . This observation suggests a role for genetic and epigenetic as well as environmental modulation of the phenotype. Identification of mutations allows screening of unaffected individuals for presence or absence of this mutation in extended\n LP<\/jats:styled-content>\n families, with implications for genetic counseling.\n <\/jats:p>","DOI":"10.1111\/exd.12620","type":"journal-article","created":{"date-parts":[[2014,12,22]],"date-time":"2014-12-22T02:08:07Z","timestamp":1419214087000},"page":"220-222","source":"Crossref","is-referenced-by-count":21,"title":["Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in\n \n ECM<\/scp>\n 1\n <\/i>"],"prefix":"10.1111","volume":"24","author":[{"given":"Leila","family":"Youssefian","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran"},{"name":"Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran"},{"name":"Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"},{"name":"Molecular Medicine Division Biotechnology Research Center Pasteur Institute of Iran Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Daneshpazhooh","sequence":"additional","affiliation":[{"name":"Autoimmune Bullous Diseases Research Center Department of Dermatology Razi Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Abdollahzadeh","sequence":"additional","affiliation":[{"name":"Neurosurgery Department Shariati Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamidreza","family":"Talari","sequence":"additional","affiliation":[{"name":"Radiology Department and Anatomic Science Research Center Kashan University of Medical Sciences Kashan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alireza","family":"Khoshnevisan","sequence":"additional","affiliation":[{"name":"Neurosurgery Department Shariati Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheyda","family":"Chams\u2010Davatchi","sequence":"additional","affiliation":[{"name":"Autoimmune Bullous Diseases Research Center Department of Dermatology Razi Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roozbeh","family":"Mobasher","sequence":"additional","affiliation":[{"name":"Autoimmune Bullous Diseases Research Center Department of Dermatology Razi Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiaoli","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology The Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahin","family":"Akhondzadeh","sequence":"additional","affiliation":[{"name":"Psychiatric Research Center Roozbeh Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Tabrizi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02158983"},{"key":"e_1_2_5_3_1","first-page":"1","volume":"53","author":"Hofer P A","year":"1973","journal-title":"Acta Derm Venereol Suppl 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