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Whole exome sequencing (WES) and Sanger sequencing were employed to reveal the novel mutations on <jats:italic>CCN6<\/jats:italic> of five patients with PPD from China in order to increase the clinical data of PPD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four suspected PPD pedigrees containing five patients in total were collected from 1998 to 2018 in our medical center. The phenotypes of each suspected PPD case were recorded in detail, and peripheral blood samples were collected for subsequent sequencing. Genomic DNA was extracted from peripheral blood samples, and Agilent liquid phase chip capture system was utilized for efficient enrichment of whole exome region DNA. After acquiring raw sequenced reads of whole exome region, bioinformatics analysis was completed in conjunction with reference or genome sequence (GRCh37\/hg19). Sanger sequencing was performed to identify the results of WES.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, four novel PPD\u2010related mutation sites in <jats:italic>CCN6<\/jats:italic> gene were identified including (<jats:italic>CCN6<\/jats:italic>):c.643\u00a0+\u00a02T&gt;C, (<jats:italic>CCN6<\/jats:italic>):c.1064_1065dupGT(p.Gln356ValfsTer33), (<jats:italic>CCN6<\/jats:italic>):c.1064G\u00a0&gt;\u00a0A), and exon4:c.670dupA:p.W223fs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings increase the clinical data of PPD including the <jats:italic>CCN6<\/jats:italic> mutation spectrum, the clinical symptoms and signs. Moreover, the study highlights the utility of WES in reaching definitive diagnoses for PPD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1261","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T02:22:00Z","timestamp":1588213320000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>CCN6<\/i> mutation detection in Chinese patients with progressive pseudo\u2010rheumatoid dysplasia and identification of four novel mutations"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4366-3213","authenticated-orcid":false,"given":"Yingjie","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College &amp; Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuemei","family":"Yang","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking Union Medical College Hospital Peking Union Medical College &amp; Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihong","family":"Wu","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking Union Medical College Hospital Peking Union Medical College &amp; Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College &amp; Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guixing","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College &amp; Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xisheng","family":"Weng","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College &amp; Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuli","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Peking Union Medical College Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.34411"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37164"},{"key":"e_1_2_10_4_1","unstructured":"Bhavani G. 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