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Article

Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.

Journal of medical genetics - 1 Aug 2022

Durkin Anna, DeVile Catherine, Arundel Paul, Bull Mary, Walsh Jennifer, Bishop Nicholas J, Hupin Emilie, Parekh Susan, Nadarajah Ramesh, Offiah Amaka C, Calder Alistair, Brock Joanna, Baker Duncan, Balasubramanian Meena

Abstract excerpt

BACKGROUND: Secreted protein, acidic, cysteine rich (SPARC)-related osteogenesis imperfecta (OI), also referred to as OI type XVII, was first described in 2015, since then there has been only one further report of this form of OI. SPARC is located on chromosome 5 between bands q31 and q33. The encoded protein is necessary for calcification of the collagen in bone, synthesis of extracellular matrix and the...

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PMID: 34462290
DOI: 10.1136/jmedgenet-2021-107942

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