Ehlers-Danlos Syndrome (Labrador Retriever Type) varient 1
Affected Genes: COL5A1
Inheritance: Autosomal Dominant
Variant(canFam6):
chr9:50089457: 1 bp deletion G
Breed: Labrador Retriever
General Information: Ehlers-Danlos Syndrome (EDS) (Labrador Retriever Type) variant 1 is a hereditary connective tissue disorder that affects Labrador Retrievers, typically becoming apparent before the age of two. Dogs with EDS exhibit symptoms such as hypermobile (loose) joints, which can lead to frequent dislocations, and excessively elastic skin that is prone to tearing, bruising, and stretching far beyond normal limits. These dogs often have fragile blood vessels, leading to easy bruising and swelling, and they may show open wounds and scars from past injuries. Due to the severe nature of the disease and the associated poor quality of life, affected dogs may sometimes require euthanasia to prevent suffering.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Possibly Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Ehlers-Danlos Syndrome (Labrador Retriever Type) variant 1 involves screening for mutations in the COL5A1 gene. EDS is inherited in an autosomal dominant manner, meaning that a dog only needs to inherit one copy of the mutated gene to develop the disease. Each puppy born to a parent carrying one copy of the mutation has a 50% chance of inheriting the mutation and being at risk for the disease. Genetic testing is crucial for identifying carriers and making informed breeding decisions. To prevent the transmission of EDS and avoid producing affected puppies, it is recommended to avoid breeding dogs known to carry the mutation. Ensuring that breeding pairs do not include carriers of the COL5A1 mutation helps eliminate the risk of this debilitating condition and promotes the health and genetic integrity of future generations.
References:
Bauer A, Bateman JF, Lamandé SR, Hanssen E, Kirejczyk SGM, Yee M, Ramiche A, Jagannathan V, Welle M, Leeb T, and Bateman FL,. Identification of Two Independent COL5A1 Variants in Dogs with Ehlers–Danlos Syndrome. Genes (Basel) 2019 Oct; 10(10): 731.