{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:14:26Z","timestamp":1777457666424,"version":"3.51.4"},"reference-count":51,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T00:00:00Z","timestamp":1743379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703700"],"award-info":[{"award-number":["2022YFC2703700"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["CIFMS: 2021-I2M-1-051"],"award-info":[{"award-number":["CIFMS: 2021-I2M-1-051"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021-I2M-1-053"],"award-info":[{"award-number":["2021-I2M-1-053"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["NSFC: 82000846"],"award-info":[{"award-number":["NSFC: 82000846"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["82000846"],"award-info":[{"award-number":["82000846"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["2022YFC2703700"],"award-info":[{"award-number":["2022YFC2703700"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["CIFMS: 2021-I2M-1-051"],"award-info":[{"award-number":["CIFMS: 2021-I2M-1-051"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["2021-I2M-1-053"],"award-info":[{"award-number":["2021-I2M-1-053"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["NSFC: 82000846"],"award-info":[{"award-number":["NSFC: 82000846"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["82000846"],"award-info":[{"award-number":["82000846"]}]},{"name":"National Natural Science Foundation of China","award":["2022YFC2703700"],"award-info":[{"award-number":["2022YFC2703700"]}]},{"name":"National Natural Science Foundation of China","award":["CIFMS: 2021-I2M-1-051"],"award-info":[{"award-number":["CIFMS: 2021-I2M-1-051"]}]},{"name":"National Natural Science Foundation of China","award":["2021-I2M-1-053"],"award-info":[{"award-number":["2021-I2M-1-053"]}]},{"name":"National Natural Science Foundation of China","award":["NSFC: 82000846"],"award-info":[{"award-number":["NSFC: 82000846"]}]},{"name":"National Natural Science Foundation of China","award":["82000846"],"award-info":[{"award-number":["82000846"]}]},{"name":"NSFC","award":["2022YFC2703700"],"award-info":[{"award-number":["2022YFC2703700"]}]},{"name":"NSFC","award":["CIFMS: 2021-I2M-1-051"],"award-info":[{"award-number":["CIFMS: 2021-I2M-1-051"]}]},{"name":"NSFC","award":["2021-I2M-1-053"],"award-info":[{"award-number":["2021-I2M-1-053"]}]},{"name":"NSFC","award":["NSFC: 82000846"],"award-info":[{"award-number":["NSFC: 82000846"]}]},{"name":"NSFC","award":["82000846"],"award-info":[{"award-number":["82000846"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Osteogenesis imperfecta (OI) is marked by clinical and genetic heterogeneity, and the genotype\u2013phenotype correlation remains not very clear. We conducted a clinical and genetic study in a Chinese OI cohort to determine the spectra of phenotypes and pathogenic variants. Methods: In this study, 298 Chinese families were recruited from 2019 to 2024. Clinical phenotypes including fractures, short stature, skeletal deformities, blue sclera, dentinogenesis imperfecta, and hearing loss were recorded and analyzed. Next-generation sequencing combined with PCR-based techniques was used to detect candidate pathogenic variants. Variant pathogenicity was evaluated via conservation analysis, bioinformatics analysis, and functional studies at the cellular level. In this OI cohort, the spectra of pathogenic variants, clinical phenotypes, and genotype\u2013phenotype correlations were analyzed. Results: Our OI cohort included 71 type I (23.83%), 122 type III (40.94%), 90 type IV (30.20%), and 15 type V (5.03%) probands. The cohort consisted of 196 children (65.77%) and 102 adults (34.23%). For the first time, phenotypic differences between different age groups were confirmed. In total, we identified 231 variants, including 47 novel pathogenic variants. Notable variants include two atypical splicing variants, one small deletion, two small duplications, one gross deletion, and one gross duplication. New genotype\u2013phenotype correlations were observed: patients with SERPINF1 variants had the highest fracture frequency, followed by those with WNT1 variants, compared to patients with other gene variants. Conclusions: We performed the clinical and genetic analysis in a large Chinese OI cohort. The expanded spectra of genetic variants and clinical phenotypes were constructed by identifying 47 novel pathogenic variants and summarizing the skeletal and extra-skeletal manifestations. The current paper will provide important evidence for the precise diagnosis of the disease.<\/jats:p>","DOI":"10.3390\/genes16040416","type":"journal-article","created":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T04:21:01Z","timestamp":1743481261000},"page":"416","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta"],"prefix":"10.3390","volume":"16","author":[{"given":"Siji","family":"Zhou","sequence":"first","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuzhi","family":"Ren","sequence":"additional","affiliation":[{"name":"Key Laboratory in Science and Technology Development Project of Suzhou (CN), Pediatric Orthopedics, Children\u2019s Hospital of Soochow University, No. 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6025-637X","authenticated-orcid":false,"given":"Yixuan","family":"Cao","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huan","family":"Mi","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingchen","family":"Han","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulu","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chendan","family":"Jiang","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuqian","family":"Ye","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoqun","family":"Zheng","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binshan","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9429-2889","authenticated-orcid":false,"given":"Nan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 1 Shuai Fu Community, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Stomatology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 1 Shuai Fu Community, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7070-5896","authenticated-orcid":false,"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, No. 172 Tongzipo Road, Changsha 410017, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8238-6311","authenticated-orcid":false,"given":"Xiuli","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China"},{"name":"Key Laboratory in Science and Technology Development Project of Suzhou (CN), Pediatric Orthopedics, Children\u2019s Hospital of Soochow University, No. 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, China"},{"name":"Center for Rare Diseases, State Key Laboratory of Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 1 Shuai Fu Community, Dongcheng District, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.metabol.2017.06.001","article-title":"Osteogenesis imperfecta\u2014A clinical update","volume":"80","author":"Tournis","year":"2018","journal-title":"Metab. 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