{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T22:01:00Z","timestamp":1777413660834,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,4,15]],"date-time":"2013-04-15T00:00:00Z","timestamp":1365984000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"J. C. M.","award":["RR0024979"],"award-info":[{"award-number":["RR0024979"]}]},{"name":"J. C. M.","award":["DE08559"],"award-info":[{"award-number":["DE08559"]}]},{"name":"M. D.","award":["AR055313"],"award-info":[{"award-number":["AR055313"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2013,7]]},"abstract":"Abstract<\/jats:title>Epidermolytic ichthyosis (EI<\/jats:styled-content>) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT<\/jats:styled-content>1<\/jats:italic> and KRT<\/jats:styled-content>10<\/jats:italic>. To date, only four mutations with autosomal recessive inheritance of EI<\/jats:styled-content> have been described in consanguineous families. All of them affect the 2B domain of KRT<\/jats:styled-content>10<\/jats:italic>. In the present study, we describe four patients with EI<\/jats:styled-content> (including one lethal case) born from unaffected parents in a consanguineous family of a native Venezuelan community. The objective of this study was to characterize the clinical, genetic, and morphological aspects of the disease in this family, as well as understand its functional implications. Genomic DNA<\/jats:styled-content> was sequenced for KRT<\/jats:styled-content>10<\/jats:italic> and KRT<\/jats:styled-content>1<\/jats:italic>. Immunofluoresence for keratin expression was performed on cutaneous biopsies. After examination of cutaneous biopsies histology, our results showed hyperkeratosis and acantholysis with an expanded granular layer. Sequencing of KRT<\/jats:styled-content>10<\/jats:italic> demonstrated a nonsense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. The loss of K10 was compensated by upregulation of K14 and K17. In conclusion, this novel mutation in KRT<\/jats:styled-content>10<\/jats:italic> is the first recessive genetic variation that is not located in the so called \u201chot spot\u201d for recessive EI<\/jats:styled-content>, suggesting that other areas of the gene are also susceptible for such mutations.<\/jats:p>","DOI":"10.1002\/mgg3.6","type":"journal-article","created":{"date-parts":[[2013,4,15]],"date-time":"2013-04-15T08:13:00Z","timestamp":1366013580000},"page":"108-112","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis"],"prefix":"10.1002","volume":"1","author":[{"given":"Jeydith A.","family":"Gutierrez","sequence":"first","affiliation":[{"name":"Internal Medicine Department Carver College of Medicine University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeina C.","family":"Hannoush","sequence":"additional","affiliation":[{"name":"Escuela de Medicina Luis Razetti Universidad Central de Venezuela Caracas Venezuela"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis G.","family":"Vargas","sequence":"additional","affiliation":[{"name":"Escuela de Medicina Luis Razetti Universidad Central de Venezuela Caracas Venezuela"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison","family":"Momany","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Carver College of Medicine University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen C.","family":"Garcia","sequence":"additional","affiliation":[{"name":"C\u00e1tedra de Patolog\u00eda General y Fisiopatolog\u00eda Instituto de Medicina Experimental Universidad Central de Venezuela (UCV) Caracas Venezuela"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Carver College of Medicine University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Dunnwald","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Carver College of Medicine University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10096.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700553"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09534"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09665.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.5070\/D38HV5R331","article-title":"Epidermolytic hyperkeratosis","volume":"12","author":"Kwak J.","year":"2006","journal-title":"Dermatol. Online J."},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.2.469"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl028"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2008.12.058"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.131"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701257"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.6","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T17:55:45Z","timestamp":1696269345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,15]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/mgg3.6"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.6","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,15]]},"assertion":[{"value":"2013-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-03-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-04-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}