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In the general community, the disease is largely polygenic in genetic architecture, with many polymorphisms having been identified in gout or urate\u2010associated traits. In a small proportion of cases, rare high penetrant mutations associated with monogenic segregation of the disease in families have been demonstrated to be disease causative. In this study, we recruited a two\u2010generation pedigree with early\u2010onset gout. To elucidate the genetic predisposition, whole\u2010exome sequencing (WES) was performed. After comprehensive variant analyses and cosegregation testing, we identified a missense variant (c.277C&gt;A, p.L93M) in <jats:italic>SLC16A9<\/jats:italic>, an extremely rare variant in genetic databases. Moreover, in silico assessments showed strong pathogenicity. This variant cosegregated with the disease phenotype perfectly in the family and is located in a highly conserved functional domain. A few studies supported our results of the association between <jats:italic>SLC16A9<\/jats:italic> and gout and serum urate levels. In conclusion, we provide the first evidence for the association of rare missense in <jats:italic>SLC16A9<\/jats:italic> with early\u2010onset gout. These findings not only expand our current understanding of gout but also may have further implications for the treatment and prevention of gout.<\/jats:p>","DOI":"10.1155\/2020\/4321419","type":"journal-article","created":{"date-parts":[[2020,1,31]],"date-time":"2020-01-31T23:33:16Z","timestamp":1580513596000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Whole\u2010Exome Sequencing Reveals a Rare Missense Variant in <i>SLC16A9<\/i> in a Pedigree with Early\u2010Onset Gout"],"prefix":"10.1155","volume":"2020","author":[{"given":"Xiu-Feng","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunwu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenni","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linhua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5280-7100","authenticated-orcid":false,"given":"Xiaoru","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,31]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(09)60883-7"},{"key":"e_1_2_9_2_2","first-page":"1582","article-title":"Increasing prevalence of gout and hyperuricemia over 10 years among older adults in a managed care population","volume":"31","author":"Wallace K. 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