Hereditary deafness (EOAD)
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
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.
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.
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.
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 number | 8269 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Test specifications
Symptom complex | auditory |
Causality | causally |
Gene | CDH23 |
Mutation | C-T |
Literature | OMIA: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 number | 8269 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Test specifications
Symptom complex | auditory |
Causality | causally |
Gene | EPS8L2 |
Mutation | DEL |
Literature | OMIA: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 number | 8269 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Test specifications
Symptom complex | auditory |
Causality | causally |
Gene | LOXHD1 |
Mutation | G-C |
Literature | OMIA:002336-9615 |