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Lookup NU author(s): Dr Beth Gibson, Professor Michael Briggs
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation. However, very little is currently known about the disease pathways that underlie these aggrecanopathies, although they are likely to be a combination of haploinsufficiency and dominant-negative (neomorphic) mechanisms. This review discusses the known human and animal aggrecanopathies in the context of clinical presentation and potential disease mechanisms.
Author(s): Gibson BG, Briggs MD
Publication type: Review
Publication status: Published
Journal: Orphanet Journal of Rare Diseases
Year: 2016
Volume: 11
Online publication date: 28/06/2016
Acceptance date: 27/05/2016
ISSN (electronic): 1750-1172
Publisher: BIOMED CENTRAL LTD
URL: http://dx.doi.org/10.1186/s13023-016-0459-2
DOI: 10.1186/s13023-016-0459-2
