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Mutation in FKBP10 causes early onset of scoliosis

ABSTRACT: Scoliosis is a three-dimensional structural deformity of the spine, while the underlying pathogenesis is not fully uncovered. Osteogenesis imperfecta (OI), known as brittle bone disease, is a group of rare genetic disorder associated with osteopenia, deformity and scoliosis. Here we found the mutation in FKBP10 resulted in early onset of scoliosis via deleterious effects on collagen processing and osteoblast differentiation.

ORGANISM(S): Homo sapiens

PROVIDER: GSE180838 | GEO | 2024/07/01

REPOSITORIES: GEO

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