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Article

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

Clinical genetics - 1 Jul 2015

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

Abstract excerpt

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...

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Identifiers

PMID: 24891183
DOI: 10.1111/cge.12440

Genes

ANO5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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