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The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

Authors
  • Gibson, Beth G.1
  • Briggs, Michael D.1, 2
  • 1 Newcastle University, Institute of Genetic Medicine, Newcastle-upon-Tyne, NE1 3BZ, UK , Newcastle-upon-Tyne (United Kingdom)
  • 2 International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK , Newcastle upon Tyne (United Kingdom)
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jun 28, 2016
Volume
11
Issue
1
Identifiers
DOI: 10.1186/s13023-016-0459-2
Source
Springer Nature
Keywords
License
Green

Abstract

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.

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