{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T14:16:49Z","timestamp":1794493009059,"version":"4.9.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,9,8]],"date-time":"2008-09-08T00:00:00Z","timestamp":1220832000000},"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":["European J Oral Sciences"],"published-print":{"date-parts":[[2008,10]]},"abstract":"<jats:p>X\u2010linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is a rare congenital disorder that results in the defective development of teeth, hair, nails, and eccrine sweat glands. Previous studies found that mutations in the ectodysplasin A (<jats:italic>EDA<\/jats:italic>) gene are associated with XLHED. In the present study, we investigated four Chinese families suffering from classical XLHED and investigated two additional families segregating hypodontia in an X\u2010linked recessive manner. Mutations were characterized respectively in the <jats:italic>EDA<\/jats:italic> gene in all families, and five of these mutations were found to be novel. Among these mutations, five were missense (c.200A&gt;T, c.463C&gt;T, c.758T&gt;C, c.926T&gt;G, and c.491A&gt;C) and located in the functional domain of <jats:italic>EDA<\/jats:italic>, and one was a splice donor site mutation in intron 5 (c.IVS5\u2003+\u20031G&gt;A), which may result in an alternative transcript derived from a new cryptic splice site. Our data further confirm that <jats:italic>EDA<\/jats:italic> mutations could cause both XLHED and isolated hypodontia and provide evidence that <jats:italic>EDA<\/jats:italic> is a strong candidate gene for tooth genesis.<\/jats:p>","DOI":"10.1111\/j.1600-0722.2008.00555.x","type":"journal-article","created":{"date-parts":[[2008,9,8]],"date-time":"2008-09-08T13:10:07Z","timestamp":1220879407000},"page":"412-417","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Mutations in the <i>EDA<\/i> gene are responsible for X\u2010linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese 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