{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:52Z","timestamp":1753869712330,"version":"3.41.2"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,4]],"date-time":"2019-03-04T00:00:00Z","timestamp":1551657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670216","81800219","81873686"],"award-info":[{"award-number":["81670216","81800219","81873686"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of\u00a0Hunan Province","doi-asserted-by":"publisher","award":["2016JJ2166","2017JJ3469","2018JJ2556"],"award-info":[{"award-number":["2016JJ2166","2017JJ3469","2018JJ2556"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI), a genetically determined connective tissue disorder, is characterized by increased bone fragility and reduced bone mass. Clinical presentation severity ranges from very mild types with nearly no fractures to intrauterine fractures and perinatal lethality. It can be accompanied by blue sclerae, dentinogenesis imperfecta (DI), hearing loss, muscle weakness, ligament laxity, and skin fragility. This study sought to identify pathogenic gene variants in a four\u2010generation Han Chinese family with OI type I.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In order to unveil the molecular genetic factors underlying the disease phenotype, whole exome sequencing in a member, with OI type I, of a Han Chinese family from Hunan, China was performed. The variant identified by whole exome sequencing was further tested by Sanger sequencing in the family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A heterozygous missense variant (NM_000089.3: c.3197G&gt;T; NP_000080.2: p.Gly1066Val) in the collagen type I alpha 2 chain gene (<jats:italic>COL1A2<\/jats:italic>) was identified in four patients. It co\u2010segregated with the disease in the family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The sequence variant may be a disease\u2010causing factor resulting in abnormal type I procollagen synthesis and leading to OI type I. This finding has significant implications for genetic counseling and clinical monitoring of high\u2010risk families and may be helpful for understanding pathogenic mechanism of OI and developing therapies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.619","type":"journal-article","created":{"date-parts":[[2019,3,4]],"date-time":"2019-03-04T10:29:31Z","timestamp":1551695371000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>COL1A2<\/i> p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I"],"prefix":"10.1002","volume":"7","author":[{"given":"Mingyuan","family":"Wang","sequence":"first","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Guo","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"},{"name":"Department of Medical Information Information Security and Big Data Research Institute, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pengfei","family":"Rong","sequence":"additional","affiliation":[{"name":"Department of Radiology The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Neurology The Third Xiangya Hospital, Central South University Changsha 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