{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T10:46:45Z","timestamp":1789469205737,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T00:00:00Z","timestamp":1787443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T00:00:00Z","timestamp":1787443200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100012013","name":"R\u00e9seau de Recherche en Sant\u00e9 Buccodentaire et Osseuse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007867","name":"Universit\u00e9 Laval","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007867","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We describe a family with 11 members affected by oral, facial and digital findings, as well as adult\u2010onset multiple long bone insufficiency fractures mimicking atypical femur fractures (AFF) on radiographs. The analysis of the pedigree of this family suggested an X\u2010linked dominant inheritance. We performed whole\u2010exome sequencing in this family. A rare novel variant, p.Ala642Asp (NM_003611, c.1925C&gt;A, hg19) of the\n                    <jats:italic>OFD1<\/jats:italic>\n                    gene was the only candidate on the X chromosome segregating with the phenotype within the family. The\n                    <jats:italic>OFD1<\/jats:italic>\n                    gene targeted sequencing was carried out on 49 patients with AFF and 100 healthy controls. We detected another rare variant, p.Lys668Asn (NM_003611, c.2004G&gt;C, hg19) of the\n                    <jats:italic>OFD1<\/jats:italic>\n                    gene, in a woman with AFF. The structure of OFD1 protein has been predicted by AlphaFold 3 (AF3). According to the AF3 model of OFD1, the destabilization of the dimerization of OFD1 by the p.Ala642Asp variant and the breaking of ionic bond by the p.Lys668Asn variant could be pathogenic. This family demonstrates that such insufficiency fractures of long bones may occur in patients with oral\u2010facial\u2010digital syndrome and provides novel insight into the pathophysiology of these fractures and their association with dental and facial hypoplasia.\n                  <\/jats:p>","DOI":"10.1111\/cge.70232","type":"journal-article","created":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T03:46:54Z","timestamp":1787543214000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare Novel Genetic Variants of the\n                    <scp>\n                      <i>OFD1<\/i>\n                    <\/scp>\n                    Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures"],"prefix":"10.1111","author":[{"given":"Marie\u2010\u00c8ve","family":"Boisvert","sequence":"first","affiliation":[{"name":"CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval Research Centre  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halim","family":"Maaroufi","sequence":"additional","affiliation":[{"name":"Institut de Biologie int\u00e9grative et Des syst\u00e8mes (IBIS), Universit\u00e9 Laval  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Laframboise","sequence":"additional","affiliation":[{"name":"Department of Genetics CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Fournier","sequence":"additional","affiliation":[{"name":"CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval Research Centre  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne N.","family":"Morin","sequence":"additional","affiliation":[{"name":"Mc\u2010Gill University  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Gagnon","sequence":"additional","affiliation":[{"name":"CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval Research Centre  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9623-962X","authenticated-orcid":false,"given":"Claudia","family":"Gagnon","sequence":"additional","affiliation":[{"name":"CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval Research Centre  Quebec Quebec Canada"},{"name":"Department of Medicine Universit\u00e9 Laval  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6879-9344","authenticated-orcid":false,"given":"Fabrice","family":"Mac\u2010Way","sequence":"additional","affiliation":[{"name":"CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval Research Centre  Quebec Quebec Canada"},{"name":"Department of Medicine Universit\u00e9 Laval  Quebec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2205-8281","authenticated-orcid":false,"given":"Mahmoud","family":"Rouabhia","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine Dentaire Universit\u00e9 Laval  Qu\u00e9bec Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1367-4437","authenticated-orcid":false,"given":"Louis\u2010Georges","family":"Ste\u2010Marie","sequence":"additional","affiliation":[{"name":"Department of Medicine, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7922-790X","authenticated-orcid":false,"given":"Arnaud","family":"Droit","sequence":"additional","affiliation":[{"name":"CHU de Qu\u00e9bec\u2010Universit\u00e9 Laval Research Centre  Quebec Quebec 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