{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T04:31:53Z","timestamp":1790829113221,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,2,27]],"date-time":"2015-02-27T00:00:00Z","timestamp":1424995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Science, ICT, and Future Planning","award":["2013R1A2A2A01067398"],"award-info":[{"award-number":["2013R1A2A2A01067398"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Chromosomal translocation of 2q37.1 just distal to the <jats:italic>NPPC<\/jats:italic> gene coding for C\u2010type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys\u2013Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (<jats:italic>TGFB2<\/jats:italic>). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation. Karyotyping revealed a balanced chromosomal translocation between 1q41 and 2q37.1, and the breakpoints could be mapped by targeted resequencing analysis. On chromosome 2q37.1, the translocation took place 200,365 bp downstream of <jats:italic>NPPC<\/jats:italic>, and serum level of the amino terminal of CNP was elevated. The contralateral site of translocation on chromosome 1q41 disrupted <jats:italic>TGFB2<\/jats:italic> gene, presumed to cause its haploinsufficiency. This case supports the concept that <jats:italic>NPPC<\/jats:italic> is overexpressed because of the loss of a specific negative regulatory control in the normal chromosomal location, and demonstrates the effectiveness of targeted resequencing in the mapping of breakpoints. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36884","type":"journal-article","created":{"date-parts":[[2015,2,27]],"date-time":"2015-02-27T11:22:09Z","timestamp":1425036129000},"page":"1033-1038","source":"Crossref","is-referenced-by-count":17,"title":["Skeletal overgrowth syndrome caused by overexpression of C\u2010type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)"],"prefix":"10.1002","volume":"167","author":[{"given":"Jung Min","family":"Ko","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Seok","family":"Bae","sequence":"additional","affiliation":[{"name":"Samsung Genome Institute Samsung Medical Center Seoul Republic of Korea"},{"name":"Department of Health Sciences and Technology Samsung Advanced Institute for Health Sciences and Technology Sungkyunkwan University Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Sun","family":"Choi","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine and Population Medical Research Center Seoul National University College of Medicine Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohji","family":"Miura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye 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