Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

doi:10.1002/jbmr.3424

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Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2018

Cundy Tim, Dray Michael, Delahunt John, Hald Jannie Dahl, Langdahl Bente, Li Chumei, Szybowska Marta, Mohammed Shehla, Duncan Emma L, McInerney-Leo Aideen M, Wheeler Patricia G, Roschger Paul, Klaushofer Klaus, Rai Jyoti, Weis MaryAnn, Eyre David, Schwarze Ulrike, Byers Peter H

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2...

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PMID: 29669177
DOI: 10.1002/jbmr.3424
PMCID: PMC6031457

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