Ehlers-Danlos Syndrome (Poodle Type, Variants 1 and 2)
Affected Genes: TNXB
Inheritance: Autosomal Recessive
Variant(canFam6):
first one missing, chr12:1625115: C>T
Breed: Aussiedoodle
Bernedoodle
Bordoodle
Cavapoo
Cavapoochon
Chihuahua
Cockapoo
Danoodle
Irishdoodle
Maltipoo
Miniature Poodle
Newfypoo
Poodle
Schnoodle
Sheepadoodle
Standard Poodle
Toy Poodle
Yorkiepoo
General Information: Ehlers-Danlos Syndrome (EDS) in Poodles is a genetic connective tissue disorder that typically manifests before two years of age, leading to various symptoms related to the skin, joints, and blood vessels. Affected dogs exhibit loose, hypermobile joints, making them more prone to dislocations and injuries. Their skin is unusually elastic and can be stretched beyond the limits seen in normal dogs, leading to frequent tearing and bruising. This skin fragility often results in open wounds or scars from previous injuries. Additionally, the blood vessels of affected dogs are fragile, increasing the risk of bruising and bleeding. These clinical signs significantly impact the dog's quality of life, requiring careful management to prevent injuries and complications. Due to the severe nature of these symptoms, early diagnosis and management are crucial for the well-being of affected dogs.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the TNXB gene is essential for identifying carriers of the mutations responsible for Ehlers-Danlos Syndrome (EDS) in Poodles. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. The test screens for two distinct mutations in the TNXB gene associated with EDS. Dogs carrying only one copy of either mutation are typically asymptomatic but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected by EDS and a 50% chance of being a carrier. Accurate genetic testing is crucial for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies with this debilitating condition. By ensuring that only non-carrier dogs are bred, breeders can help eliminate these mutations from Poodle lines, promoting healthier future generations and maintaining the health and integrity of their breeding programs.
References:
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 50(5):546-549.