{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T18:05:08Z","timestamp":1792260308257,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T00:00:00Z","timestamp":1384905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>The signal pathway of the C\u2010type natriuretic (CNP) and its receptor, natriuretic peptide receptor 2 (NPR2) is involved in the longitudinal growth of long bones. Loss of function mutations at NPR2 cause acromesomelic dysplasia, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain\u2010of\u2010function mutation at NPR2 have been reported to be responsible for an overgrowth syndrome in three cases and one family, respectively. We identified a four\u2010generation family with an overgrowth syndrome characterized by tall stature, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis, similar to those previously reported in association with CNP\/NPR2 overactivity. The serum level of amino\u2010terminal proCNP was normal in the proband. A novel missense mutation of <jats:italic>NPR2<\/jats:italic>, c.1462G&gt;C (p.Ala488Pro) was found to co\u2010segregate with the phenotype in this family. In vitro transfection assay of the mutant NPR2 revealed overactivity of the mutant receptor at baseline as well as with the ligand. This overgrowth syndrome caused by a gain\u2010of\u2010function mutation at <jats:italic>NPR2<\/jats:italic> should be differentiated from Marfan or related syndromes, and may be categorized along with the overgrowth syndrome caused by overproduction of CNP due to its phenotypical similarity as overgrowth CNP\/NPR2 signalopathy. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36218","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T00:17:30Z","timestamp":1384993050000},"page":"156-163","source":"Crossref","is-referenced-by-count":89,"title":["Overgrowth syndrome associated with a gain\u2010of\u2010function mutation of the natriuretic peptide receptor 2 (<i>NPR2<\/i>) gene"],"prefix":"10.1002","volume":"164","author":[{"given":"Kohji","family":"Miura","sequence":"first","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok\u2010Hwa","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Radiology Ajou University Hospital Suwon Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hey Ran","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Pediatric Orthopaedics Seoul National University Children's Hospital Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Namba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshimi","family":"Michigami","sequence":"additional","affiliation":[{"name":"Department of Bone and Mineral Research Osaka Medical Centre and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Joon","family":"Yoo","sequence":"additional","affiliation":[{"name":"Division of Pediatric Orthopaedics Seoul National University Children's Hospital Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In Ho","family":"Choi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Orthopaedics Seoul National University Children's Hospital Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae\u2010Joon","family":"Cho","sequence":"additional","affiliation":[{"name":"Division of Pediatric Orthopaedics Seoul National University Children's Hospital Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/422013"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20511"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.071389098"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1101"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00272.2009"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.bpo.0000230331.96157.14"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0042180"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20611"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2005-0014"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.peptides.2004.08.027"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.04.031"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C500024200"},{"key":"e_1_2_6_14_1","unstructured":"UniProtKB[Internet].UniProt Consortium (EMBL\u2010EBI PIR and SIB) [2002]. 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