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Chondrodysplasia ITGA10 (Elkhound Type) Overview

Chondrodysplasia ITGA10 (Elkhound Type)
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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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): Norwegian Elkhound,  Mixed Breed,