{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T23:12:54Z","timestamp":1768086774136,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,23]],"date-time":"2010-11-23T00:00:00Z","timestamp":1290470400000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> Nonsyndromic hypodontia or congential absence of one or more permanent teeth is a common anomaly of dental development in humans. This condition may be inherited in an autosomal (dominant\/recessive) or X\u2010linked (dominant\/recessive) mode. Mutations in three genes, <jats:italic>PAX9<\/jats:italic>, <jats:italic>MSX1<\/jats:italic>, and <jats:italic>AXIN2<\/jats:italic>, have been determined to be associated with autosomal dominant and recessive tooth agenesis. Recent studies in a few families showed that mutations in the ectodysplasin A (<jats:italic>EDA<\/jats:italic>) gene result in X\u2010linked nonsyndromic hypodontia.<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> Genotyping of a five\u2010generation Pakistani family with X\u2010linked isolated hypodontia having three affected men was carried out using EDA\u2010linked polymorphic microsatellite markers on chromosome Xq12\u2010q13.1. To screen for a mutation in the <jats:italic>EDA<\/jats:italic> gene, all of its coding exons and splice junction sites were PCR amplified from genomic DNA of affected and unaffected individuals of the family and sequenced directly in an ABI Prism 310 automated DNA sequencer.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> We successfully mapped the affected locus to chromosome Xq12\u2010q13.1, and found a novel missense mutation (c.993G&gt;C) in the <jats:italic>EDA<\/jats:italic> gene in the affected men. The mutation causes substitution of glutamine with histidine (p.Q331H) in the tumor necrosis factor homology domain of EDA<jats:italic>.<\/jats:italic><\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> A mutation identified in this study extends the body of evidence implicating the <jats:italic>EDA<\/jats:italic> gene in X\u2010linked nonsyndromic hypodontia and supports the role of EDA\u2010EDAR\u2010EDARADD signaling in the morphogenesis of teeth.<\/jats:p>","DOI":"10.1111\/j.1365-4632.2010.04596.x","type":"journal-article","created":{"date-parts":[[2010,11,23]],"date-time":"2010-11-23T07:50:12Z","timestamp":1290498612000},"page":"1399-1402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel missense mutation in the ectodysplasin\u2010A (<i>EDA<\/i>) gene underlies X\u2010linked recessive nonsyndromic hypodontia"],"prefix":"10.1111","volume":"49","author":[{"given":"Muhammad","family":"Ayub","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fazal","family":"Ur\u2010Rehman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoom","family":"Yasinzai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,23]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"1","article-title":"Hypodontia","author":"Arte S","year":"2004","journal-title":"Orph Encycl"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-417"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0353-6"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0389-2"},{"key":"e_1_2_6_7_2","first-page":"209","article-title":"A novel 4\u2010bp insertion mutation in EDA1 gene in a Pakistani family with X\u2010linked hypohydrotic ectodermal dysplasia","volume":"17","author":"Tariq M","year":"2007","journal-title":"Eur J Dermatol"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31567"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0323-x"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2008.00555.x"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.06.002"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2003.11.009"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/414913a"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/11937"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_6_16_2","volume-title":"Molecular Cloning: A Laboratortry Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2079"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06642.x"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.127"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-4632.2010.04596.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-4632.2010.04596.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T19:24:55Z","timestamp":1697397895000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-4632.2010.04596.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,23]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1111\/j.1365-4632.2010.04596.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-4632.2010.04596.x","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,23]]},"assertion":[{"value":"2010-11-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}