{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T23:10:53Z","timestamp":1789600253616,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,2]],"date-time":"2018-04-02T00:00:00Z","timestamp":1522627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous<jats:italic>SOX9<\/jats:italic>mutations. Most patients are sporadic due to a<jats:italic>de novo<\/jats:italic>mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel<jats:italic>SOX9<\/jats:italic>mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained. This is the first report of molecularly confirmed maternal germinal mosaicism for a<jats:italic>SOX9<\/jats:italic>mutation. We suggest that a meticulous clinical examination of the parents, even if they are superficially healthy, is needed to avoid overlooking germinal mosaicism of<jats:italic>SOX9<\/jats:italic>mutations.<\/jats:p>","DOI":"10.1111\/cga.12279","type":"journal-article","created":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T12:31:47Z","timestamp":1521117107000},"page":"194-197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Familial campomelic dysplasia due to maternal germinal mosaicism"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6981-9722","authenticated-orcid":false,"given":"Daisuke","family":"Higeta","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Gunma University, Graduate School of Medicine Gunma Japan"},{"name":"Department of Obstetrics and Gynecology Japan Community Health Care Organization, Gunma Chuo Hospital Gunma Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rie","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Takagi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gunma Children's Medical Center Gunma Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Intractable Disease Center Saitama Medical University Hospital Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2573-3035","authenticated-orcid":false,"given":"Kiyoko","family":"Sameshima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Minamikyusyu National Hospital Kagoshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Minegishi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Gunma University, Graduate School of Medicine Gunma Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1625"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.415"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"2528","DOI":"10.1002\/ajmg.a.36134","article-title":"A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome","volume":"161","author":"Matsushita M","year":"2013","journal-title":"Am J Med Genet A"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31631"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90041-8"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12279","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12279","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T01:23:15Z","timestamp":1719883395000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,2]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1111\/cga.12279"],"URL":"https:\/\/doi.org\/10.1111\/cga.12279","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,2]]},"assertion":[{"value":"2017-11-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}