{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:07:42Z","timestamp":1791925662489,"version":"4.3.4"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2005,11,7]],"date-time":"2005-11-07T00:00:00Z","timestamp":1131321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> Lipoid proteinosis (LP) (OMIM 247100) is a rare, autosomal recessive disorder. Recent studies have shown that LP is the result of reduced expression of the extracellular matrix protein gene (<jats:italic>ECM\u20101<\/jats:italic>), in which loss\u2010of\u2010function mutations have been described. In the present report, we describe a large consanguineous family with LP. We identified a homozygous splice\u2010site mutation in intron 1 (IVS1\u2003+\u20031G\u2192C) in three clinically affected patients. This is the first splice\u2010site mutation reported in LP and is the most 5\u2032 of all <jats:italic>ECM\u20101<\/jats:italic> mutations described thus far. It is predicted to result in the removal of the translation initiation site, thus ablating all three known <jats:italic>ECM\u20101<\/jats:italic> isoforms (<jats:italic>ECM\u20101a<\/jats:italic>, <jats:italic>ECM\u20101b<\/jats:italic>, and <jats:italic>ECM\u20101c<\/jats:italic>). In addition, we found a novel splicing variant that is not associated with the disease (DQ010946) and results in the generation of a short, prematurely terminating transcript. This case further emphasizes the role of <jats:italic>ECM\u20101<\/jats:italic> in LP and highlights the unresolved genotype\u2013phenotype correlation in this disease.<\/jats:p>","DOI":"10.1111\/j.1600-0625.2005.00374.x","type":"journal-article","created":{"date-parts":[[2005,11,7]],"date-time":"2005-11-07T15:07:43Z","timestamp":1131376063000},"page":"891-897","source":"Crossref","is-referenced-by-count":19,"title":["A novel splice\u2010site mutation in <i>ECM\u20101<\/i> gene in a consanguineous family with lipoid proteinosis"],"prefix":"10.1111","volume":"14","author":[{"given":"Liran","family":"Horev","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Potikha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Ayalon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vered","family":"Molho\u2010Pessach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arieh","family":"Ingber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad Abdel","family":"Gany","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basel 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