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Mutations in <jats:italic>COMP<\/jats:italic> are known to give rise to PSACH. In this study, we identified a novel nucleotide mutation (NM_000095.2: c.1317C&gt;G, p.D439E) in <jats:italic>COMP<\/jats:italic> responsible for PSACH in a Chinese family by employing whole\u2010exome sequencing (WES) and built the structure model of the mutant protein to clarify its pathogenicity. The novel mutation cosegregated with the affected individuals. Our study expands the spectrum of <jats:italic>COMP<\/jats:italic> mutations and further provides additional genetic testing information for other PSACH patients.<\/jats:p>","DOI":"10.1155\/2021\/6678531","type":"journal-article","created":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T16:36:24Z","timestamp":1615221384000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Novel <i>COMP<\/i> Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia"],"prefix":"10.1155","volume":"2021","author":[{"given":"Bing-Bing","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3140-2216","authenticated-orcid":false,"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuang-Zhuang","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6622-1071","authenticated-orcid":false,"given":"Lei","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-3615","authenticated-orcid":false,"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,8]]},"reference":[{"key":"e_1_2_10_1_2","volume-title":"Gene Reviews((R))","author":"Briggs M. 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