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Chondrodysplasia ITGA10 (Elkhound Type)
Test Overview:
The skeletal dysplasias are disorders of the bone and cartilage tissues. Similarly to humans, several dog breeds have been reported to suffer from different types of genetic skeletal disorders. We have studied the molecular genetic background of an autosomal recessive chondrodysplasia that affects the Norwegian Elkhound and Karelian Bear Dog breeds. The affected dogs suffer from disproportionate short stature dwarfism of varying severity.
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Gene:
Integrin subunit alpha 10 (ITGA10) on Chromosome 17
Variant Detected:
Base Substitution c.2083C>T p.Arg695STOP
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Kyöstilä, K. et al. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. (2013) PLoS One 8(9):e75621.
Associated Breed(s):
Mixed Breed, Norwegian Elkhound,
