{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T14:05:01Z","timestamp":1784383501540,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T00:00:00Z","timestamp":1571616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background\/Objectives<\/jats:title><jats:p>Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and is often associated with a personal or family history of atopic disease. The presence of loss\u2010of\u2010function mutations in the filaggrin gene (<jats:italic>FLG<\/jats:italic>) is the main predisposing factor for AD <jats:italic>FLG<\/jats:italic> mutations show ethnic and geographical variations, even between European populations. We sought to determine the frequency of the 3 most common <jats:italic>FLG<\/jats:italic> null mutations in a population of Spanish children consisting of healthy controls and AD patients. We also investigated the association between these 3 <jats:italic>FLG<\/jats:italic> mutations and AD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 214 participants (111 AD patients and 103 healthy controls) were enrolled in this study. Genotyping for 3 <jats:italic>FLG<\/jats:italic> null mutations (R501X, 2282del4, and R2447X) was performed by conventional Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The combined mutation frequency was 1.9% in the control group and 12.6% in the AD group. The most common <jats:italic>FLG<\/jats:italic> mutation in AD patients was R501X (9.9%), followed by R2447X (2.7%) and 2282del4 (1.8%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings further our understanding of the prevalence of <jats:italic>FLG<\/jats:italic> null mutations in the Spanish population, and suggest that the frequency of <jats:italic>FLG<\/jats:italic> mutations in AD patients in Spain is slightly higher than that of other Mediterranean countries.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.14025","type":"journal-article","created":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T01:28:47Z","timestamp":1571707727000},"page":"98-102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Prevalence of FLG loss\u2010of\u2010function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4736-9097","authenticated-orcid":false,"given":"Ricardo","family":"Gonz\u00e1lez\u2010Taranc\u00f3n","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry University Hospital Miguel Servet Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalia","family":"Sanmart\u00edn","sequence":"additional","affiliation":[{"name":"Emergency Unit Salud Huesca Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola","family":"Lorente","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry University Hospital Miguel Servet Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Salvador\u2010Rup\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry University Hospital Miguel Servet Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Hern\u00e1ndez\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Rello","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry University Hospital Miguel Servet Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Puzo","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry University Hospital Miguel Servet Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda","family":"Gilaberte","sequence":"additional","affiliation":[{"name":"Department Dermatology University Hospital Miguel Servet Zaragoza 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