Deafness in Rottweilers

Hereditary bilateral deafness in Rottweilers is already present in puppies at the age of a few weeks. It is caused by a missense mutation c.5747G>C in the LOXHD1 gene that is known to be essential for cochlear hair cell function.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Hytönen, M.K., Niskanen, J.E., Arumilli, M., Brookhart-Knox, C.A., Donner, J., Lohi, H. : Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. Hum Genet 140:1611-18, 2021. Pubmed reference: 33983508