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

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...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2016-06, Vol.11 (1), p.86-86, Article 86
Main Authors: Gibson, Beth G, Briggs, Michael D
Format: Article
Language:English
Subjects:
Aggrecans - metabolism
Arthritis
Bone Diseases, Developmental - metabolism
Bone Diseases, Developmental - pathology
Care and treatment
Cartilage
Cartilage - metabolism
Cartilage - pathology
Chondrodysplasia punctata
Chondroitin
Disease
Dosage and administration
Dwarfism
Dysplasia
Genetic aspects
Homeostasis
Humans
Keratin
Medical research
Mutation
Mutation - genetics
Osteochondrodysplasias - metabolism
Osteochondrodysplasias - pathology
Pedigree
Proteins
Rare diseases
Review
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Summary: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.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-016-0459-2