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Ehlers-Danlos Syndrome (Poodle Type), Variant 1

Description

Genetic basis - Identified as a mutation in the TNXB gene (encoding tenascin-XB), which plays a key role in connective tissue integrity. Variant 1 involves a point mutation disrupting TNXB gene function leading to structurally weak connective tissue. TNXB is essential for assembling and organizing the extracellular matrix and collagen fibrils.

Pathophysiology - Loss of normal TNXB function causes defective connective tissue, mainly affecting skin and joints. Results in skin fragility, hyperextensibility, and joint hypermobility similar to classical Ehlers-Danlos Syndrome (EDS). Abnormal collagen and extracellular matrix lead to fragile tissues prone to injury and poor healing.

Complications - Increased risk of skin injury, infections from wounds. Joint discomfort due to hypermobility. Potential chronic pain and disability. No cure; treatment is symptomatic and supportive.

Why This Matters to Breeders and Vets - This is one of the few genetically confirmed forms of EDS in dogs, specifically in Poodles and related breeds. Genetic testing for TNXB mutations helps identify carriers and affected dogs to prevent breeding affected puppies. Understanding the genetic cause aids veterinarians in diagnosing, managing, and advising owners on this rare condition. Supports breed health by enabling responsible breeding strategies to reduce incidence while maintaining diversity.

Recommended Breeding

Diseases

Ehlers-Danlos Syndrome (Poodle Type), Variant 1

$ 50.00

1

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

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.

Gene:

TNXB

Variant Detected:

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

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference