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Article

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

American journal of medical genetics. Part A - 1 Mar 2025

Batkovskyte Dominyka, Swolin-Eide Diana, Hammarsjö Anna, Sæther Kristine Bilgrav, Thunström Sofia, Lundin Johanna, Eisfeldt Jesper, Lindstrand Anna, Nordgren Ann, Åström Eva, Grigelioniene Giedre

Abstract excerpt

Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2. Type I collagen is the main protein of the extracellular matrix in the skeleton and changes in its structure or quantity may lead to OI. 85%-90% of OI cases occur due...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39513464
DOI: 10.1002/ajmg.a.63935

Genes

COL1A2
COL1A1
DLX3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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