{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T06:32:22Z","timestamp":1762065142761,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2022T150445","QML20211401"],"award-info":[{"award-number":["2022T150445","QML20211401"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Beijing Hospitals Authority Youth Programme","award":["2022T150445","QML20211401"],"award-info":[{"award-number":["2022T150445","QML20211401"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Introduction: Osteogenesis imperfecta (OI) is a rare mendelian skeletal dysplasia with autosomal dominant or recessive inheritance pattern, and almost the most common primary osteoporosis in prenatal settings. The diversity of clinical presentation and genetic etiology in prenatal OI cases presents a challenge to counseling yet has seldom been discussed in previous studies. Methods: Ten cases with suspected fetal OI were enrolled and submitted to a genetic detection using conventional karyotyping, chromosomal microarray analysis (CMA), and whole-exome sequencing (WES). Sanger sequencing was used as the validation method for potential diagnostic variants. In silico analysis of specific missense variants was also performed. Results: The karyotyping and CMA results of these cases were normal, while WES identified OI-associated variants in the COL1A1\/2 genes in all ten cases. Six of these variants were novel. Additionally, four cases here exhibited distinctive clinical and\/or genetic characteristics, including the situations of intrafamilial phenotypic variability, parental mosaicism, and \u201cdual nosogenesis\u201d (mutations in collagen I and another gene). Conclusion: Our study not only expands the spectrum of COL1A1\/2-related OI, but also highlights the complexity that occurs in prenatal OI and the importance of clarifying its pathogenic mechanisms.<\/jats:p>","DOI":"10.3390\/genes13091578","type":"journal-article","created":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T23:35:57Z","timestamp":1662420957000},"page":"1578","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal Cases Reflect the Complexity of the COL1A1\/2 Associated Osteogenesis Imperfecta"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7457-3106","authenticated-orcid":false,"given":"Kai","family":"Yang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jue","family":"Wu","sequence":"additional","affiliation":[{"name":"Translational Medicine Research Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing 100039, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang 050011, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua-ying","family":"Hu","sequence":"additional","affiliation":[{"name":"Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing 100083, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"You-sheng","family":"Yan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-qi","family":"Chen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang 050011, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-fa","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-juan","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-qing","family":"Sun","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"},{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing-qing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng-hong","family":"Yin","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat. 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