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Article

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.

American journal of medical genetics. Part A - 1 Jun 2022

Lang Steven H, Gallo Ryan A, Forghani Irman

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare connective tissue disorder with clinical and genetic heterogeneity. The cardinal features of OI are bone fragility and low bone mineral density (BMD). Pathogenic variants in COL1A1 and COL1A2 genes, which encode the proα-1(I) and proα-2(I) chains of Type 1 collagen, are the most common causes of OI. Mutations disrupting the carboxy-terminal propeptide cleavage site of the...

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Identifiers

PMID: 35243755
DOI: 10.1002/ajmg.a.62712

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.PMID 35243755Read ↗

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