Hereditary deafness (EOAD)

General description

In the breeds Rottweiler, Beauceron and Rhodesian Ridgeback, different breed specific genetic variants lead to early forms of complete deafness.

Breeds

Beauceron, Rhodesian Ridgeback, Rottweiler

Detailed description

Hereditary Deafness/Hearing Loss (EOAD) - Beauceron

In the breed Beauceron, a genetic variant in the gene CDH23 causes congenital, non-syndromic deafness with bilateral hearing loss. Affected puppies showed a normal growth except for the deafness.

Order details
Test number8269
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexauditory
Inheritanceautosomal recessive
Causalitycausally
GeneCDH23
MutationC-T
LiteratureOMIA:002584-9615

Hereditary Deafness/Hearing Loss (EOAD) - Rhodesian Ridgeback

Rhodesian Ridgeback dogs suffer from an early onset adult deafness, a progressive form of hearing loss leading to deafness in the age of one to two years. This disease is caused by a deletion in the EPS8L2 gene.

Order details
Test number8269
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexauditory
Inheritanceautosomal recessive
Causalitycausally
GeneEPS8L2
MutationDEL
LiteratureOMIA:002550-9615

Hereditary Deafness/Hearing Loss (EOAD) - Rottweiler

In the breed Rottweiler, a genetic variant of the LOXHD1 gene causes an early-onset hearing loss. At the moment, it is still unclear if the puppies are born with deafness or if they are born with hearing impairment which progresses to deafness until the age of a few weeks. The LOXHD1 gene is suspected to be involved in maintaining the function of the cochlear hair cells.

Order details
Test number8269
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexauditory
Inheritanceautosomal recessive
Causalitycausally
GeneLOXHD1
MutationG-C
LiteratureOMIA:002336-9615