{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:54:01Z","timestamp":1772160841999,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"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":["Oral Diseases"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To investigate the genetic causes of 22 patients with clinically high suspicion of X\u2010linked hypohidrotic ectodermal dysplasia from 20 unrelated Chinese families, expand the spectrum of\n                      <jats:italic>ectodysplasin\u2010A<\/jats:italic>\n                      mutations, and provide more evidence for variants of uncertain significance.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Subjects and Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing was performed and potentially pathogenic variants were verified by Sanger sequencing. Western blotting, real\u2010time PCR and immunofluorescence analyses were performed to investigate the preliminary functions of the candidate variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Nineteen\n                      <jats:italic>ectodysplasin\u2010A<\/jats:italic>\n                      variants were identified, six of which were not previously reported. Among these variants, we identified a patient who carried two mutations in\n                      <jats:italic>ectodysplasin\u2010A<\/jats:italic>\n                      and exhibited more severe phenotypes. Additionally, mutant protein expression levels decreased, whereas mRNA transcription levels increased. Cellular sublocalisation of the variants located in the tumour necrosis factor homologous domain showed that the proteins accumulated in the nucleus, whereas wild\u2010type proteins remained in the cell membrane. A rare indel variant and two classical splicing variants that lead to exon 7 skipping were detected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study provides definitive diagnoses for 20 families with suspected X\u2010linked hypohidrotic ectodermal dysplasia and additional information on clinical heterogeneity and genotype\u2013phenotype relationships.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14838","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T23:24:13Z","timestamp":1703201053000},"page":"4608-4619","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of six novel mutations in\n                    <scp>EDA<\/scp>\n                    from 20 hypohidrotic ectodermal dysplasia families"],"prefix":"10.1111","volume":"30","author":[{"given":"Qin","family":"Xing","sequence":"first","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qimin","family":"Zhou","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyan","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongjie","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayu","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huimin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"},{"name":"Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6010-6139","authenticated-orcid":false,"given":"Zhuo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Key Laboratory of Rare Pediatric Diseases, Ministry of Education, Central South University  Changsha China"},{"name":"Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital  Changsha Hunan 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