{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T14:57:46Z","timestamp":1754146666213,"version":"3.41.2"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2025-0103_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Bone morphogenetic protein 2 (<jats:italic>BMP2<\/jats:italic>) is essential for endochondral ossification, skeletal development, and bone homeostasis. Monoallelic loss-of-function variants in <jats:italic>BMP2<\/jats:italic> have been linked to short stature, facial dysmorphism, and skeletal anomalies, often accompanied by cardiac involvement. Here, we describe a 10-year-old girl with a novel heterozygous truncating <jats:italic>BMP2<\/jats:italic> variant, presenting with distinct facial features, short stature, and skeletal abnormalities, notably osteolysis in the phalanges.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0103_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>The patient was initially evaluated at six months of age due to hypotonia and dysmorphic facial features. At 10\u00a0years old, she presented with short stature and skeletal radiographs revealed osteolysis in multiple phalanges. Additional clinical evaluations, including echocardiography and metabolic studies, were unremarkable. Whole-exome sequencing identified a <jats:italic>de novo<\/jats:italic> heterozygous truncating variant (c.440C&gt;G; p.Ser147*) in\u00a0<jats:italic>BMP2<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0103_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This report identifies a novel <jats:italic>BMP2<\/jats:italic> nonsense variant and introduces osteolysis as a previously unrecognized phenotype. These findings highlight the necessity of longitudinal skeletal monitoring in BMP2-related conditions and underscore the importance of genetic evaluation in patients with subtle skeletal dysplasias to facilitate early diagnosis and management.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2025-0103","type":"journal-article","created":{"date-parts":[[2025,4,26]],"date-time":"2025-04-26T01:55:36Z","timestamp":1745632536000},"page":"767-771","source":"Crossref","is-referenced-by-count":0,"title":["Emergence of osteolysis as a new radiological feature in a case with a novel <i>BMP2<\/i> gene variant"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3232-7843","authenticated-orcid":false,"given":"Suzan","family":"S\u00fcncak","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merve Berfin","family":"Aktan Karaca","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Semra","family":"G\u00fcrsoy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Kocabey","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8334-2422","authenticated-orcid":false,"given":"Korcan","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine , Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Ceren","family":"Sar\u0131o\u011flu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Division of Pediatric Radiology, Faculty of Medicine , Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayfer","family":"\u00dclgenalp","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem","family":"Giray Bozkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Dokuz Eyl\u00fcl University , \u0130zmir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,4,28]]},"reference":[{"key":"2025071812031904802_j_jpem-2025-0103_ref_001","doi-asserted-by":"crossref","unstructured":"Miyazono, K, Kamiya, Y, Morikawa, M. 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