Early Onset Adult Deafness (EOAD)
Breed: Rhodesian Ridgeback
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
GTPs
General
Disease Name
Early Onset Adult Deafness (EOAD)
OMIA
-108
Gene Name
EPS8L2
Mutation
12-base pair deletion, is on canine chromosome 18
Test Type
Genetic Disease/Disorder
Details
[From Embark, 2022]Hearing loss is one of the most common disabilities in humans and dogs. Just like humans, Rhodesian Ridgeback dogs can experience progressive hearing loss early in life. This condition is known as early-onset adult deafness (EOAD). With this form of deafness, dogs lose their hearing by the time they are 1?2 years old. Some purebred Rhodesian Ridgebacks lose their hearing as early as 4 months of age. Breeders and dog owners have noticed that this condition can affect male dogs earlier in life than female dogs.Embark scientists discovered that a variant in the EPS8L2 gene is associated with EOAD in Rhodesian Ridgebacks. This variant, specifically a 12-base pair deletion, is on canine chromosome 18. We also found that the mode of inheritance for this variant is likely autosomal recessive. That means that both parents have to be carriers in order for the offspring to be at risk for the condition.
Body/System/Process
Ear
Inheritance
AR
Breed Specific Info
Researched Breeds
Rhodesian Ridgeback
HSP Test-Specific Data
Embark
GTP
GTP Name
Embark
Breed
OMIA
Gene Name
EPS8L2
Mutation
12-base pair deletion, is on canine chromosome 18
Nature of test
mutation test
Inheritance
AR