{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T01:58:53Z","timestamp":1789437533419,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T00:00:00Z","timestamp":1674086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012234","name":"Shenzhen Peacock Plan","doi-asserted-by":"publisher","award":["20210830100C"],"award-info":[{"award-number":["20210830100C"]}],"id":[{"id":"10.13039\/501100012234","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012234","name":"Shenzhen Peacock Plan","doi-asserted-by":"publisher","award":["20210802658C"],"award-info":[{"award-number":["20210802658C"]}],"id":[{"id":"10.13039\/501100012234","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a group of rare skeletal dysplasia. Long bone deformity and scoliosis are often associated with progressively deforming types of OI. FKBP65 (encoded by <jats:italic>FKBP10<\/jats:italic>, OMIM *607063) plays a crucial role in the processing of type I procollagen. Autosomal recessive variants in <jats:italic>FKBP10<\/jats:italic> result in type XI osteogenesis imperfecta.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients diagnosed with OI were recruited for a genetic test. RT\u2010PCR and Sanger sequencing were applied to confirm the splicing defect in <jats:italic>FKBP10<\/jats:italic> mRNA with the splice\u2010site variant. The bone structure was characterized by Goldner's trichrome staining. Bioinformatic analyses of bulk RNA sequencing data were performed to examine the effect of the <jats:italic>FKBP10<\/jats:italic> variant on gene expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here we reported three children from a consanguineous family harboured a homozygous splice\u2010site variant (c.918\u20103C\u2009&gt;\u2009G) in <jats:italic>FKBP10<\/jats:italic> intron and developed long bone deformity and early onset of scoliosis. We also observed frequent long bone fractures and spinal deformity in another 3 OI patients with different <jats:italic>FKBP10<\/jats:italic> variants. The homozygous splicing variant identified in the fifth intron of <jats:italic>FKBP10<\/jats:italic> (c.918\u20103C\u2009&gt;\u2009G) led to abnormal RNA processing and loss of FKBP65 protein and consequently resulted in aberrant collagen alignment and porous bone morphology. Analysis of transcriptomic data indicated that genes involved in protein processing and osteoblast differentiation were significantly affected in the patient\u2010derived osteoblasts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study characterized the clinical features of OI patients with <jats:italic>FKBP10<\/jats:italic> variants and revealed the pathogenesis of the c.918\u20103C\u2009&gt;\u2009G variant. The molecular analyses helped to gain insight into the deleterious effects of <jats:italic>FKBP10<\/jats:italic> variants on collagen processing and osteoblast differentiation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2122","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T12:02:51Z","timestamp":1674129771000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical features and molecular characterization of Chinese patients with <i>FKBP10<\/i> variants"],"prefix":"10.1002","volume":"11","author":[{"given":"Zhijia","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Orthopaedics and Traumatology The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine The University of Hong Kong  Pok Fu Lam Hong 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