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. and Zankl, A. (2014) 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: 49-55. doi:10.1111/cge.12440


Author 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.
Title COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
Formatted title
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
Journal name Clinical Genetics   Check publisher's open access policy
ISSN 0009-9163
1399-0004
Publication date 2014-08-15
Year available 2014
Sub-type Article (original research)
DOI 10.1111/cge.12440
Volume 88
Issue 1
Start page 49
End page 55
Total pages 7
Place of publication Malden, MA, United States
Publisher Wiley-Blackwell Publishing
Collection year 2015
Language eng
Formatted 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.
Keyword ANO5
COL1A1
Gnathodiaphyseal dysplasia
Osteogenesis imperfecta
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online ahead of print 15 August 2015.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
UQ Diamantina Institute Publications
 
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