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Article

A C-Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type III.

Congenital anomalies - 1 Jan 2026

Watanabe Daisuke, Katsumata Nobuyuki, Saito Tomohiro, Murasawa Reina, Hagino Reika, Murakami Yasushi, Shinohara Tamao, Maebayashi Yuki, Nemoto Atsushi, Naitoh Atsushi

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and frequent fractures. The disorder is caused by pathogenic variants in genes that encode type I collagen. The COL1A1 gene encodes the pro-α1(I) collagen chain, which assembles with another pro-α1(I) chain and one pro-α2(I) chain to form a heterotrimeric triple helix. The C-terminal propeptide (C-propeptide) contributes to...

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Identifiers

PMID: 41611235
DOI: 10.1002/cga.70043
PMCID: PMC13422766

Genes

COL1A1

Variants

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A C-Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type III.PMID 41611235Read ↗

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