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Ehlers-Danlos Syndrome (Poodle Type), Variant 1

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Test Overview:

Ehlers-Danlos syndrome affects dogs and is an inherited connective tissue disease. Dogs affected with this disease typically have loose (hypermobile) joints, fragile blood vessels, and excessively elastic skin that is easily torn or bruised and can be stretched beyond limits seen in normal dogs (prior to 2 years of age). Dogs may have open wounds or scars from previous injuries and are therefore at increased risk for joint dislocation.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

TNXB

Variant Detected:

chr12:1499124 (canFam3): G/A; chr12:1490385 (canFam3): G/A

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

Recommended Screening:

Genetic testing of the TNXB gene will reliably determine if a dog is a genetic Ccrrier of Ehlers-Danlos syndrome.

Research Citation(s):

Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet. 2019 Oct;50(5):546-549. doi: 10.1111/age.12830. [PubMed: 31365140]

Associated Breed(s):

Bernardoodle, Bernedoodle, Bordoodle, Cavoodle, Goldendoodle, Labradoodle , Labradoodle Retrodoodle , Miniature Poodle, Schnoodle, Standard Poodle, Toy Poodle, Whoodle,

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