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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Molecular genetics & genomic medicine - 1 Jun 2021

Higuchi Yousuke, Hasegawa Kosei, Futagawa Natsuko, Yamashita Miho, Tanaka Hiroyuki, Tsukahara Hirokazu

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a rare connective-tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1/2 variants in 22 Japanese families with OI through denaturing high-performance liquid chromatography screening, but our...

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PMID: 33939306
DOI: 10.1002/mgg3.1675
PMCID: PMC8222851

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