Ehlers-Danlos syndrome (TNXB: c.2900G>A)

€49.85
Test code: DOG-EDS
Analysis timeframe: 10 working days
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Classic-like Ehlers-Danlos syndrome is a rare genetic disorder of connective tissue, linked to abnormalities of the tenascin-XB protein (gene TNXB).

The c.2900G>A (p.Gly967Asp) mutation has been identified in a reported affected dog, in combination with a second mutation in the same gene.

Clinical signs include skin fragility, hyperextensible skin, and poor wound healing.

This mutation is found at low frequency in some breeds, but its pathogenic role remains preliminary and should be interpreted with caution.

Transmission

Autosomal recessive

Breed

Chihuahua, Poodle, Miniature Poodle, Toy Poodle

Gene

TNXB: c.2900G>A