{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T16:33:41Z","timestamp":1732034021115},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,11,21]],"date-time":"2011-11-21T00:00:00Z","timestamp":1321833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body. Autosomal recessive congenital ichthyosis (ARCI) comprises various forms, the most important of which are lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). Seven genes have been identified to be causative of ARCI, and these account for disease in 60\u201380% of the patients. There is notable phenotypic overlap between the major forms of ARCI, and a strong genotype\u2013phenotype correlation has not been found. Here, we initially aimed to identify the causative gene in a large Iranian ARCI pedigree, and subsequently performed genetic analysis on four other affected pedigrees. A genotype\u2013phenotype correlation was sought. Whole genome homozygosity mapping using high\u2010density single nucleotide polymorphism chips was performed on the large pedigree. Linkage to chromosome 5 and a mutation in <jats:italic>NIPAL4<\/jats:italic> causing p.G297R were identified. The same mutation was also identified in two of the remaining four Iranian pedigrees. Two of the <jats:italic>NIPAL4<\/jats:italic> mutation bearing pedigrees were classified as CIE and one as LI. Notably, all <jats:italic>NIPAL4<\/jats:italic> mutation\u2010bearing patients manifested diffuse yellowish keratoderma on the palms and soles. We provide evidence suggesting presentation of this diffuse yellowish keratoderma may be indicative of mutations in <jats:italic>NIPAL4<\/jats:italic>, providing an easily assessable genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1111\/j.1346-8138.2011.01412.x","type":"journal-article","created":{"date-parts":[[2011,11,21]],"date-time":"2011-11-21T06:08:19Z","timestamp":1321855699000},"page":"375-381","source":"Crossref","is-referenced-by-count":17,"title":["Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in <i>NIPAL4<\/i>"],"prefix":"10.1111","volume":"39","author":[{"given":"Afagh","family":"ALAVI","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mostafa M.","family":"SHAHSHAHANI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brandy","family":"KLOTZLE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian\u2010Bing","family":"FAN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mostafa","family":"RONAGHI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elahe","family":"ELAHI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,21]]},"reference":[{"key":"e_1_2_6_2_2","volume-title":"On Cutaneous Diseases","author":"Willan R","year":"1808"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30032"},{"key":"e_1_2_6_4_2","first-page":"349","article-title":"Ichthyoses: differential diagnosis and molecular genetics","volume":"16","author":"Oji V","year":"2006","journal-title":"Eur J Dermatol"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.57"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.409"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7824952"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0395-279"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.1.107"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg235"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh263"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi491"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.021"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050542"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1159\/000265757"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2002.00091.x"},{"issue":"4","key":"e_1_2_6_18_2","first-page":"183","article-title":"Howel\u2013Evans syndrome: a variant of ectodermal dysplasia","volume":"85","author":"Sroa N","year":"2010","journal-title":"Cutis"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-002-0328-9"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1346-8138.2011.01412.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1346-8138.2011.01412.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T21:16:41Z","timestamp":1698700601000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1346-8138.2011.01412.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,21]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1111\/j.1346-8138.2011.01412.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1346-8138.2011.01412.x","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,21]]}}}