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Chondrodysplasia ITGA10 (Elkhound Type)

Chondrodysplasia ITGA10 (Elkhound Type)

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Test Overview:

Chondrodysplasia is an inherited disease affecting Norwegian elkhounds. Affected dogs are unable to synthesize a protein important for cartilage and bone development resulting in dwarfism. Symptoms can include short bowed legs, shortening of outer digits, “knock-knee” appearance, hip dysplasia and muscle Atrophy of hind limbs. On average, limbs of affected adults are about 10 cm shorter than normal dogs. Due to abnormal bone alignment at joints, dogs with this condition may be predisposed to arthritis as they age.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

Integrin subunit alpha 10 (ITGA10) on Chromosome 17

Variant Detected:

chr17:58703935 (canFam3): C>T

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):

Bingel SA, Sande RD. Chondrodysplasia in the Norwegian elkhound. Am J Pathol. 1982 May;107(2):219-29. [PubMed: 7081383] Donner J, Kaukonen M, Anderson H, Moller Fredrik, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. doi: 10.1371/journal.pone.0161005. [PubMed: 27525650] Kyostila K, Lappalainen AK, Lohi H. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PLoS One. 2013 Sep 25;8(9):e75621. doi:10.1371/journal.pone.0075621. eCollection 2013. [PubMed: 24086591]

Associated Breed(s):

Mixed Breed, Norwegian Elkhound,

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