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Article

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

Human mutation - 1 Jan 2026

Christensen Julie A, Tran Anne, Cheng Hui, Talvacchio Sara, Brewer Carmen C, Zalewski Christopher, Chisholm Jennifer, Wafa Talah T, Allemang L Noelle, Evans Elena F, Derkyi Alberta, Marini Joan C, Poling Gayla L

Abstract excerpt

Purpose: This study interrogates longitudinal natural history data to determine whether hearing loss (HL) incidence, onset, degree, and type in osteogenesis imperfecta (OI) caused by heterozygous collagen missense variants are associated with a specific gene or combinations of causal gene and OI type. Methods: Audiological evaluation was conducted in 73 children with Type III or IV OI carrying COL1A1 or COL1A2...

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Topics

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Share to Collagen Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42633065
DOI: 10.1155/humu/6245371
PMCID: PMC13498850

Genes

COL1A1
COL1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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