{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:19:04Z","timestamp":1787015944687,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004543","name":"China Scholarship Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background\/objectives<\/jats:title>\n                    <jats:p>\n                      Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss\u2010of\u2010function pathogenic variants in the extracellular matrix protein\u20101 (\n                      <jats:italic>ECM1<\/jats:italic>\n                      ) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded papules on the eyelids, infiltration and scarring of the skin and mucosa, as well as neuropsychological abnormalities. Currently, more than 70 pathogenic variants have been reported, including nonsense, missense, splice site, deletion and insertion pathogenic variants, and more than half of them occurred in exons 6 and 7.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical evaluation and Sanger sequencing were performed on eight patients from four unrelated Arab families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two novel\n                      <jats:italic>ECM1<\/jats:italic>\n                      variants, one nonsense pathogenic variant in exon 6 (c.579G&gt;A, p.Trp193*) and a deletion of three nucleotides (c.1390_1392del, p.Glu464del) in exon 9, and two previously reported frameshift variants; c.692_693delAG, in exon 6 and c.11dupC in exon 1.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Although all patients had characteristic manifestations of lipoid proteinosis, we observed intrafamilial phenotypic variability. Our data expand the pathogenic variant spectrum of\n                      <jats:italic>ECM1<\/jats:italic>\n                      and also supports the fact that exon 6 is one of the most common hot spots of pathological variants in\n                      <jats:italic>ECM1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pde.15105","type":"journal-article","created":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T06:50:13Z","timestamp":1659595813000},"page":"113-119","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Lipoid proteinosis: Novel\n                    <i>ECM1<\/i>\n                    pathogenic variants and intrafamilial variability in four unrelated Arab families"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2662-4199","authenticated-orcid":false,"given":"Mingfeng","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology, Medical Center \u2013 University of Freiburg, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical Center\u2010University of Freiburg, Faculty of Medicine  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Safwat","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical Research Institute Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walaa","family":"Shoman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9849-2204","authenticated-orcid":false,"given":"Yasmine El","family":"Chazli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svenja","family":"Alter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical Center\u2010University of Freiburg, Faculty of Medicine  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-507X","authenticated-orcid":false,"given":"Cristina","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Medical Center \u2013 University of Freiburg, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2486-8782","authenticated-orcid":false,"given":"Ebtesam","family":"Abdalla","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical Research Institute Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,4]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"1","article-title":"Urbach\u2010Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). 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