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News Article

Researchers identify a gene defect that causes deafness in Rottweilers

Genetic variant for canine nonsyndromic hearing loss described

Researchers from the University of Helsinki and the Folkhälsan Research Center investigated a rare type of hearing loss observed in Rottweilers. It begins early in life, progressing to deafness at the age of a few months. A similar type of hearing loss was also seen in a small number of mixed-breed dogs, of which the majority had Rottweiler ancestry.

“We identified the variant in the LOXHD1 gene, which plays a key role in the function of the cilia of the cochlear sensory cells. While the exact mechanism of deafness is not known, variants of the same gene cause hereditary hearing loss in humans and mice as well,” says Docent Marjo Hytönen from the University of Helsinki and the Folkhälsan Research Center.

Hearing impairment caused by the LOXHD1 gene defect is a recessively inherited trait, which means that to develop the disorder, the dog must have two copies of the defective gene.

“Through our collaboration partner, we had the chance to investigate the prevalence and breed specificity of the gene variant in a unique global dataset of some 800,000 dogs. No surveys of similar scope have previously been published,” says Professor Hannes Lohi from the University of Helsinki and the Folkhälsan Research Center.

New individual dogs that had inherited the gene defect and were also found to be deaf were identified in the screening.

“This enhances the significance of our finding. Thanks to our gene discovery, dogs used for breeding can now be tested for the defect. This makes it possible to avoid combinations that could result in puppies who will lose their hearing.”

The findings, reported in Human Genetics, also provide a new animal model for human hearing disorders.

The study is part of a research programme led by Professor Lohi investigating the genetic background of canine hereditary diseases. Several ongoing projects aim to determine genetic causes for hearing loss.

According to Marjo Hytönen, the preliminary results are promising.

“We have observed that both previously unknown hereditary congenital hearing loss and adult-onset hearing loss occur in several dog breeds. In addition to dogs, the preliminary findings open new avenues for investigating human hereditary hearing defects.”

Article: Hytönen, M. K., Niskanen, J. E., Arumilli, M., Brookhart-Knox, C. A., Donner, J., Lohi, H. (2021). Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. Human Genetics, advance online publication, doi: 10.1007/s00439-021-02286-z

Article details

  • Date
  • 26 May 2021
  • Source
  • University of Helsinki
  • Subject(s)
  • Dogs, Cats, and other Companion Animals