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Article

A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2021

Huang Huan, Liu Jiamei, Zhang Guoying

Abstract excerpt

Our study reports a novel dominant COL1A1 mutation in OI. Using a zebrafish model, we confirmed that the glycine to serine substitution at position 608 of the COL1A1 protein has deleterious effects on bone development. PURPOSE: Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders. Mutations in two genes, collagen type I alpha 1 chain (COL1A1) and collagen type I alpha...

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Identifiers

PMID: 33705765
DOI: 10.1016/j.cca.2021.02.024

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