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Article

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

Bone - 1 Jul 2022

Ludwig Karissa, Ward Leanne M, Khan Nasrin, Robinson Marie-Eve, Miranda Valancy, Bardai Ghalib, Moffatt Pierre, Rauch Frank

Abstract excerpt

Mutations in SP7 (encoding osterix) have been identified as a rare cause of recessive osteogenesis imperfecta ('OI type XII') and in one case of dominant juvenile Paget's disease. We present the first description of young adult siblings with OI due to a unique heterozygous mutation in SP7. The phenotype was characterized by fragility fractures (primarily of the long bone diaphyses), poor healing, scoliosis, and...

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Identifiers

PMID: 35367406
DOI: 10.1016/j.bone.2022.116400

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