{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T15:23:07Z","timestamp":1785338587461,"version":"3.55.0"},"reference-count":37,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T00:00:00Z","timestamp":1713484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Council for Scientific and Technological Development","award":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"],"award-info":[{"award-number":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"]}]},{"name":"National Council for Scientific and Technological Development","award":["CNPq 305981\/2023-4"],"award-info":[{"award-number":["CNPq 305981\/2023-4"]}]},{"name":"National Council for Scientific and Technological Development","award":["PROADI-SUS 25000.083098\/2019-71"],"award-info":[{"award-number":["PROADI-SUS 25000.083098\/2019-71"]}]},{"name":"Brazilian Ministry of Health","award":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"],"award-info":[{"award-number":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"]}]},{"name":"Brazilian Ministry of Health","award":["CNPq 305981\/2023-4"],"award-info":[{"award-number":["CNPq 305981\/2023-4"]}]},{"name":"Brazilian Ministry of Health","award":["PROADI-SUS 25000.083098\/2019-71"],"award-info":[{"award-number":["PROADI-SUS 25000.083098\/2019-71"]}]},{"name":"Programa de Apoio ao Desenvolvimento Institucional do Sistema \u00danico de Sa\u00fade from the Brazilian Ministry of Health","award":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"],"award-info":[{"award-number":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"]}]},{"name":"Programa de Apoio ao Desenvolvimento Institucional do Sistema \u00danico de Sa\u00fade from the Brazilian Ministry of Health","award":["CNPq 305981\/2023-4"],"award-info":[{"award-number":["CNPq 305981\/2023-4"]}]},{"name":"Programa de Apoio ao Desenvolvimento Institucional do Sistema \u00danico de Sa\u00fade from the Brazilian Ministry of Health","award":["PROADI-SUS 25000.083098\/2019-71"],"award-info":[{"award-number":["PROADI-SUS 25000.083098\/2019-71"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over 180 manifestations already described. In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the MIF gene or in genes associated with monogenic arthritis (LACC1, LPIN2, MAFB, NFIL3, NOD2, PRG4, PRF1, STX11, TNFAIP3, TRHR, UNC13DI). However, the patient presented 41 risk polymorphisms for juvenile idiopathic arthritis. Thus, in the present case, arthritis seems coincidental to 22q11.2 deletion syndrome, probably caused by a multifactorial etiology. The association of the MIF gene in individuals previously described with juvenile idiopathic arthritis and 22q11.2 deletion seems unlikely since it is located in the distal and less-frequently deleted region of 22q11.2 deletion syndrome.<\/jats:p>","DOI":"10.3390\/genes15040513","type":"journal-article","created":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T04:10:15Z","timestamp":1713499815000},"page":"513","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis"],"prefix":"10.3390","volume":"15","author":[{"given":"Ruy Pires","family":"de Oliveira-Sobrinho","sequence":"first","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Appenzeller","sequence":"additional","affiliation":[{"name":"Departamento de Ortopedia, Reumatologia e Traumatologia, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ianne Pessoa","family":"Holanda","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falia L\u00f4ndero","family":"Heleno","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep","family":"Jorente","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Rare Genomes Project Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Hou, X., Qu, H., Zhang, S., Qi, X., Hakonarson, H., Xia, Q., and Li, J. 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