{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T17:47:16Z","timestamp":1781545636421,"version":"3.54.5"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,8,15]],"date-time":"2014-08-15T00:00:00Z","timestamp":1408060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:p>Gnathodiaphyseal dysplasia (<jats:styled-content style=\"fixed-case\">GDD<\/jats:styled-content>) is a rare autosomal dominant condition characterized by bone fragility, irregular bone mineral density (<jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content>) and fibro\u2010osseous lesions in the skull and jaw. Mutations in Anoctamin\u20105 (<jats:italic><jats:styled-content style=\"fixed-case\">ANO5<\/jats:styled-content>)<\/jats:italic> have been identified in some cases. We aimed to identify the causative mutation in a family with features of <jats:styled-content style=\"fixed-case\">GDD<\/jats:styled-content> but no mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ANO5<\/jats:styled-content><\/jats:italic>, using whole exome capture and massive parallel sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>). WES of two affected individuals (a mother and son) and the mother's unaffected parents identified a mutation in the C\u2010propeptide cleavage site of <jats:italic>COL1A1<\/jats:italic>. Similar mutations have been reported in individuals with osteogenesis imperfecta (OI) and paradoxically increased BMD. C\u2010propeptide cleavage site mutations in <jats:italic><jats:styled-content style=\"fixed-case\">COL1A1<\/jats:styled-content><\/jats:italic> may not only cause \u2018high bone mass <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>\u2019, but also the clinical features of <jats:styled-content style=\"fixed-case\">GDD<\/jats:styled-content>, specifically irregular sclerotic <jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content> and fibro\u2010osseous lesions in the skull and jaw. <jats:styled-content style=\"fixed-case\">GDD<\/jats:styled-content> patients negative for <jats:italic><jats:styled-content style=\"fixed-case\">ANO5<\/jats:styled-content><\/jats:italic> mutations should be assessed for mutations in type I collagen C\u2010propeptide cleavage sites.<\/jats:p>","DOI":"10.1111\/cge.12440","type":"journal-article","created":{"date-parts":[[2014,5,30]],"date-time":"2014-05-30T13:04:30Z","timestamp":1401455070000},"page":"49-55","source":"Crossref","is-referenced-by-count":17,"title":["<i><scp>COL1A1<\/scp><\/i> C\u2010propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?"],"prefix":"10.1111","volume":"88","author":[{"given":"A. M.","family":"McInerney\u2010Leo","sequence":"first","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. L.","family":"Duncan","sequence":"additional","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"},{"name":"Department of Endocrinology Royal Brisbane and Women's Hospital  Herston QLD 4029 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. J.","family":"Leo","sequence":"additional","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Gardiner","sequence":"additional","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. A.","family":"Bradbury","sequence":"additional","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. E.","family":"Harris","sequence":"additional","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. R.","family":"Clark","sequence":"additional","affiliation":[{"name":"Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital  Woolloongabba QLD 4102 Australia"},{"name":"Department of Medical Genetics, Academic Laboratory of Medical Genetics Addenbrooke's Hospital  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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