A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review

Abstract Backgroud Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous group of inherited connective tissue disorder. This investigation aims to elucidate the molecular etiology underlying a four-generation Chinese family affected by OI. Methods Whole-exome sequencing was...

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Manylion Llyfryddiaeth

Prif Awduron:	Dongye He, Yanan Luo, Shuoshuo Wei, Yumeng Wang, Chuanpeng Zhang, Shuxiong Chen, Bo Ban, Mei Zhang, Yanying Li
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2025-08-01
Cyfres:	Human Genomics
Pynciau:	Osteogenesis imperfecta Whole-exome sequencing COL1A1 Splicing variant Minigene assay
Mynediad Ar-lein:	https://doi.org/10.1186/s40246-025-00816-8
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