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In 28 patients, whole exome sequencing was used to investigate genomic variations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found that camptodactyly of hands was the first symptom presented by most patients. Swelling of wrists, knees, and elbows began before 4\u00a0years of age, while the age of joint involvement was variable. Patients reported an increased pain level after the age of 10, and severe hip involvement developed after 20\u00a0years old. All patients presented developmental coxa vara and seven patients (~22%) had pleural effusion, pericarditis, and\/or ascites. We identified nine novel genomic alterations, including the first case of homozygous complete deletion of exon 1 in the <jats:italic><jats:styled-content style=\"fixed-case\">PRG<\/jats:styled-content>4<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>With this study, we contribute to the catalog of <jats:styled-content style=\"fixed-case\">CACP<\/jats:styled-content> causing variants. We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense\u2010mediated <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> decay. We believe that this report will increase awareness of this familial arthropathic condition and the characteristic clinical and radiological findings will facilitate the differentiation from the common childhood rheumatic diseases such as juvenile idiopathic arthritis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.364","type":"journal-article","created":{"date-parts":[[2018,2,4]],"date-time":"2018-02-04T05:10:45Z","timestamp":1517721045000},"page":"230-248","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Genotype\u2013phenotype investigation of 35 patients from 11 unrelated families with camptodactyly\u2013arthropathy\u2013coxa vara\u2013pericarditis (<scp>CACP<\/scp>) syndrome"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6476-3910","authenticated-orcid":false,"given":"Saliha","family":"Yilmaz","sequence":"first","affiliation":[{"name":"Department of Neurosurgery Program on 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