{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:21:30Z","timestamp":1767136890941,"version":"build-2238731810"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101232"],"award-info":[{"award-number":["82101232"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["8176040078"],"award-info":[{"award-number":["8176040078"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82160217"],"award-info":[{"award-number":["82160217"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2019M663875XB"],"award-info":[{"award-number":["2019M663875XB"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2019M663413"],"award-info":[{"award-number":["2019M663413"]}],"id":[{"id":"10.13039\/501100002858","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":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Osteogenesis imperfecta type I (OI\u2010I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and hearing loss. The current study aimed to confirm the clinical diagnosis and genetic cause of OI\u2010I in a four\u2010generation Chinese family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical investigation and pedigree analysis were conducted to characterize the phenotypic manifestations of a Chinese family with OI\u2010I. Follow\u2010up audiometry and imaging tests were used to evaluate the postoperative outcomes of stapes surgery in the proband with otosclerosis. Whole\u2010exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variants and for cosegregating analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We described in detail the clinical features of the collected family with autosomal dominant OI\u2010I, and firstly identified a pathogenic splicing variant (c.2344\u20101G&gt;T) in intron 33 of\n                      <jats:italic>COL1A1<\/jats:italic>\n                      in a Chinese family. The molecular analysis suggested that the mutation might cause splice site changes that result in a loss of gene function. The proband, who suffered from otosclerosis and presented two\u2010side middle\u2010severe conductive hearing loss, benefitted significantly from successive bilateral middle ear surgery.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The diagnosis of OI\u2010I in a Chinese family was established by clinical and genetic investigation. A heterozygous pathogenic splicing variant in\n                      <jats:italic>COL1A1<\/jats:italic>\n                      was directly responsible for the bone fragility and hearing loss of this family. Otosclerosis surgery should be suggested to rehabilitate conductive hearing impairment in OI patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2019","type":"journal-article","created":{"date-parts":[[2022,7,20]],"date-time":"2022-07-20T02:39:20Z","timestamp":1658284760000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I"],"prefix":"10.1002","volume":"10","author":[{"given":"Zhijie","family":"Niu","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongjing","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenwen","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingyuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songhua","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning 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Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanglong","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihong","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6852-7317","authenticated-orcid":false,"given":"Anzhou","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Regional Key Laboratory of Early Prevention and Treatment of High\u2010Rise Tumors  Nanning 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