{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T19:45:20Z","timestamp":1790624720375,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,6,12]],"date-time":"2014-06-12T00:00:00Z","timestamp":1402531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Viracor-IBT Laboratories"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Atopic dermatitis (<jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>) and ichthyosis vulgaris (<jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>) are two common disorders of epidermal homeostasis resulting in dry skin. The profilaggrin gene, located on chromosome 1q22, encodes a keratin filament aggregating protein (filaggrin) that is essential to forming the epidermal barrier and maintaining hydration. Null mutations in filaggrin have been found to underlie <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> and are common in patients with <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>, but the minority of <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>frican <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>mericans with <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> show these mutations in filaggrin. We have selectively studied African Americans with both <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> to maximize the possibility of finding filaggrin null mutations in this population. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was collected using buccal swabs from 18 <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>frican <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>merican children with both <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> and 17 African American controls without either of these diseases. Purified genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was amplified using polymerase chain reaction from three regions of the filaggrin gene, exon 3, including R501X, 2282del4, E2554X, R2447X, 1249insG, R826X, 2767insT, and E2422X. Of the African American children with both <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>, 22.2% were heterozygous for filaggrin null mutations. Out of the control group, one carried a null mutation and was later discovered to have a history of asthma. Null mutations found in this population included R501X (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), 2282del4 (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), and R826X (<jats:italic>n<\/jats:italic>\u00a0=\u00a02, including the control patient). Our data demonstrate a prevalence of filaggrin mutations in the African American population that exceeds previously published data, although the overall prevalence is still lower than in other populations. It is likely that factors other than known <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> mutations are involved in <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>frican <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>merican patients.<\/jats:p>","DOI":"10.1111\/pde.12355","type":"journal-article","created":{"date-parts":[[2014,6,12]],"date-time":"2014-06-12T06:37:09Z","timestamp":1402555029000},"page":"489-492","source":"Crossref","is-referenced-by-count":39,"title":["Filaggrin Gene Mutations in African Americans with Both Ichthyosis Vulgaris and Atopic Dermatitis"],"prefix":"10.1111","volume":"31","author":[{"given":"Ingrid","family":"Polcari","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Minnesota Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Becker","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Feinberg School of Medicine Northwestern University Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L.","family":"Stein","sequence":"additional","affiliation":[{"name":"Section of Dermatology Departments of Medicine and Pediatrics University of Chicago Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn S.","family":"Smith","sequence":"additional","affiliation":[{"name":"Viracor\u2010IBT Laboratories Lee's Summit Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy S.","family":"Paller","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Feinberg School of Medicine Northwestern University Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,6,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1767"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1011040"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.07.008"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1398-9995.2010.02493.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701205"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.398"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10331.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2007.04.031"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.07.034"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10475.x"},{"key":"e_1_2_5_12_1","unstructured":"National Human Genome Research Institute and National Center for Biotechnology Information. dbSNP database [online]. 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