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Our previous study found a high correlation between microtia and thoracic deformities, thus, we propose that external ear and thorax development may be regulated by certain genes in common.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed exome sequencing on 10 families of sporadic microtia with thoracic abnormalities. We identified mutated genes under different models of inheritance, and checked them through Mouse Genome Informatics and association analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 45 rare mutations, including 9 de novo mutations, 20 heterozygous mutations, 3 homozygous mutations, and 13 hemizygous mutations, of which 2 are likely to be causative. They are de novo missense variant in <jats:italic>PHF5A<\/jats:italic> and compound heterozygous mutations in <jats:italic>CYP26B1<\/jats:italic>, of which <jats:italic>CYP26B1<\/jats:italic> mutation is highly likely pathogenic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results indicate that certain genes may affect both external ear and thorax development, and demonstrate the benefits of whole\u2010exome sequencing in identifying candidate genes of microtia. This study provides a new way for genetic exploration in microtia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1657","type":"journal-article","created":{"date-parts":[[2021,4,3]],"date-time":"2021-04-03T08:53:01Z","timestamp":1617439981000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Whole\u2010exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1302-1439","authenticated-orcid":false,"given":"Meirong","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Auricular Reconstruction Chinese Academy of Medical Sciences and Peking Union Medical College Plastic Surgery Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaosheng","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Affiliated Hospital of Weifang Medical University Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Auricular Reconstruction Chinese Academy of Medical Sciences and Peking Union Medical College Plastic Surgery Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changchen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Auricular Reconstruction Chinese Academy of Medical Sciences and Peking Union Medical College Plastic Surgery Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1427-1923","authenticated-orcid":false,"given":"Zhen","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Sichuan Provincial People's Hospital Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengyong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery West China Hospital of Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Auricular Reconstruction Chinese Academy of Medical Sciences and Peking Union Medical College Plastic Surgery Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyue","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Auricular Reconstruction Chinese Academy of Medical Sciences and Peking Union Medical College Plastic Surgery Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.131"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.07.003"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22367"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.09.002"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2018.07.007"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.58"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40122-019-0124-2"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.015"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1200872109"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0562-4"},{"key":"e_1_2_8_13_1","first-page":"D3711","article-title":"Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations","volume":"163","author":"Linthorst G. 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