COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: A new cause of gnathodiaphyseal dysplasia?

McInerney-Leo, A.M., Duncan, E.L., Leo, P.J., Gardiner, B., Bradbury, L.A., Harris, J.E., Clark, G.R., Brown, M.A., & Zankl, A. (2015) COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: A new cause of gnathodiaphyseal dysplasia? Clinical Genetics, 88(1), pp. 49-55.

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Abstract

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant condition characterized by bone fragility, irregular bone mineral density (BMD) and fibro-osseous lesions in the skull and jaw. Mutations in Anoctamin-5 (ANO5) have been identified in some cases. We aimed to identify the causative mutation in a family with features of GDD but no mutation in ANO5, using whole exome capture and massive parallel sequencing (WES). WES of two affected individuals (a mother and son) and the mother's unaffected parents identified a mutation in the C-propeptide cleavage site of COL1A1. Similar mutations have been reported in individuals with osteogenesis imperfecta (OI) and paradoxically increased BMD. C-propeptide cleavage site mutations in COL1A1 may not only cause 'high bone mass OI', but also the clinical features of GDD, specifically irregular sclerotic BMD and fibro-osseous lesions in the skull and jaw. GDD patients negative for ANO5 mutations should be assessed for mutations in type I collagen C-propeptide cleavage sites.

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ID Code: 87996
Item Type: Journal Article
Refereed: Yes
Keywords: ANO5, COL1A1, Gnathodiaphyseal dysplasia, Osteogenesis imperfecta, anoctamin 5, procollagen C proteinase, protein, unclassified drug, adult, Article, autosomal dominant disorder, bone density, bone fragility, bone mass, case report, child, clinical feature, female, gene mutation, gene sequence, human, jaw disease, male, preschool child, priority journal
DOI: 10.1111/cge.12440
ISSN: 0009-9163
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2014 John Wiley & Sons A/S
Deposited On: 02 Oct 2015 02:06
Last Modified: 17 Mar 2016 22:28

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