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This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with whole\u2010exome sequencing (WES) were performed. The clinical manifestations of all three patients were thoroughly monitored; and three de novo diagnostic variants, namely <jats:italic>COL5A1<\/jats:italic>: NM_001278074.1: c.4609\u20102A&gt;C, <jats:italic>COL3A1<\/jats:italic>: NM_000090.3: c.3554G&gt;T(p.Gly1185Val), and <jats:italic>COL1A1<\/jats:italic>: NM_000088.3: c.545G&gt;T(p.Gly182Val) were identified from them, respectively. The findings in this study expanded the mutation spectrum of EDS and strengthened the efficiency of WES in the differential diagnosis on disorders with overlapping phenotypes and various pathogenesis.<\/jats:p>","DOI":"10.1002\/mgg3.1885","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T11:32:12Z","timestamp":1643974332000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Whole\u2010exome sequencing facilitates the differential diagnosis of <scp>Ehlers\u2013Danlos<\/scp> syndrome (<scp>EDS<\/scp>)"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4390-677X","authenticated-orcid":false,"given":"Fang","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Dermatology Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Candidate Branch of National Clinical Research Center for Skin Diseases  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong\u2010Juan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Shijiazhuang Obstetrics and Gynecology Hospital  Shijiazhuang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Li","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Shijiazhuang Obstetrics and Gynecology Hospital  Shijiazhuang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan\u2010Xin","family":"Meng","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Shijiazhuang Obstetrics and Gynecology Hospital  Shijiazhuang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Jun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Intensive Care Unit Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong\u2010Feng","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Candidate Branch of National Clinical Research Center for Skin Diseases  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010020\u20100194\u20109"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.04.013"},{"key":"e_1_2_9_4_1","volume-title":"Connective tissue and its heritable disorders","author":"Steinmann B.","year":"2002"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamafacial.2017.0793"},{"key":"e_1_2_9_7_1","unstructured":"MalfaitF. 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