{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T14:05:49Z","timestamp":1785333949917,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,10,24]],"date-time":"2015-10-24T00:00:00Z","timestamp":1445644800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81272554"],"award-info":[{"award-number":["81272554"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81472526"],"award-info":[{"award-number":["81472526"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>X\u2010linked hypohidrotic ectodermal dysplasia (<jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content>) is characterized by abnormalities of hair, teeth, and sweat glands, while non\u2010syndromic hypodontia (<jats:styled-content style=\"fixed-case\">NSH<\/jats:styled-content>) affects only teeth. Mutations in <jats:italic>Ectodysplasin A<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic>) underlie both <jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">NSH<\/jats:styled-content>. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (<jats:styled-content style=\"fixed-case\">HED<\/jats:styled-content>) patients and genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The <jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic> gene of six patients with <jats:styled-content style=\"fixed-case\">HED<\/jats:styled-content> was sequenced. Bioinformatics analysis and structural modeling for the mutations were performed. The records of 134 patients with <jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content> and <jats:italic><jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic>\u2010related <jats:styled-content style=\"fixed-case\">NSH<\/jats:styled-content> regarding numbers of missing permanent teeth from this study and 20 articles were reviewed. Nonparametric tests were used to analyze genotype\u2013phenotype correlations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In four of the six patients, we identified a novel mutation c.852T&gt;G (p.Phe284Leu) and three reported mutations: c.467G&gt;A (p.Arg156His), c.776C&gt;A (p.Ala259Glu), and c.871G&gt;A (p.Gly291Arg). They were predicted to be pathogenic by bioinformatics analysis and structural modeling. Genotype\u2013phenotype correlation analysis revealed that truncating mutations were associated with more missing teeth. Missense mutations and the mutations affecting the <jats:styled-content style=\"fixed-case\">TNF<\/jats:styled-content> homology domain were correlated with fewer missing teeth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study extended the mutation spectrum of <jats:styled-content style=\"fixed-case\">XLHED<\/jats:styled-content> and revealed the relationship between genotype and the number of missing permanent teeth.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12376","type":"journal-article","created":{"date-parts":[[2015,9,28]],"date-time":"2015-09-28T01:53:00Z","timestamp":1443405180000},"page":"994-1000","source":"Crossref","is-referenced-by-count":21,"title":["Novel <i><scp>EDA<\/scp><\/i> mutation in X\u2010linked hypohidrotic ectodermal dysplasia and genotype\u2013phenotype correlation"],"prefix":"10.1111","volume":"21","author":[{"given":"B","family":"Zeng","sequence":"first","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"},{"name":"Department of Medical Genetics Zhongshan School of Medicine and Center for Genome Research Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Lu","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X","family":"Xiao","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Zhou","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Lu","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Zhu","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Yu","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Zhao","sequence":"additional","affiliation":[{"name":"Guanghua School of Stomatology Guangdong Provincial Key Laboratory of Stomatology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/520064"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1661"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34045"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36541"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.131076098"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01376.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21384"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12404"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0080393"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/414913a"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202012"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2003.11.009"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21239"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514522059"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01037.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-230X-10-8"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034513519801"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/11937"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi405"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.127"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2010.03.012"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.132636999"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101280200"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084012"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034508328627"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1360-x"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.21.4691"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200635"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100877"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.10871.x"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5491.523"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.007"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.005"}],"container-title":["Oral 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