Researchers discover rare novel genetic defect causing hearing loss inRottweilers providing a new large animal model for human hearing disorders

Wisdom Health Genetics, the world leader in pet genetics and maker of theWISDOM PANEL™ dog DNA test, announced today the publication in HumanGenetics of a landmark study conducted in partnership with the University ofHelsinki.

The study— Missense variant in LOXHD1 is associated with canine nonsyndromichearing loss —describes the first identified genetic variant for caninenonsyndromic hearing loss, a common deficiency in humans and dogs.

Researchers utilized homozygosity mapping and genome sequencing to identify arare variant in LOXHD1 , a gene associated with nonsyndromic hearing loss inboth humans and mice.

The finding was confirmed by a screening of more than 800,000 dogs, whichfound the LOXHD1 variant to be the most likely cause of hearing loss in someidentified purebred Rottweilers and mixed-breed dogs, the majority of whichhave Rottweiler ancestry.

“Congenital and adult-onset hearing loss conditions have been reported in dogsacross many breeds, but their genetic background still remains mostlyuncharacterized,” said Jonas Donner, Ph.D., Discovery Manager at Wisdom HealthGenetics. “In addition to becoming one of the largest published caninegenotyping efforts to date, this study is an important step toward a deeperunderstanding of the molecular genetics behind hearing loss and the populationmanagement of LOXHD1- related hearing loss through genetic testing.”

Found in the Rottweiler breed, nonsyndromic hearing loss is both clinicallyand genetically similar to LOXHD1 -related hearing disorders in humans.Thus, this discovery provides a new large animal model for hearing loss.

Nonsyndromic hearing loss has been linked to more than one hundred geneticvariants to date. However, future research is needed to understand the biologyof this type of hearing loss and the related genes and variants.

“We are grateful to the more than 1000 Banfield™ Pet Hospital clinicians whodiligently and consistently recorded their observations in medical recordsduring 2019-2021—without that collective effort this work would not have beenpossible,” said Rebecca Chodroff Foran, Ph.D., R&D Director at Wisdom HealthGenetics. “This study in particular shows the value of large-scale samplingefforts integrating clinical data and genotyping: not only does it elucidatethe underlying genetics of canine disease, it also sets the groundwork for thedevelopment of a targeted genetic test to manage LOXHD1 -related hearingdisorders in the canine population.”

This study demonstrates the value of genetic research in helping pet parentsworldwide to provide the best care to their pets and furthers KinshipPartners’ commitment to setting ever-higher standards in pet care. Thediscovery of this specific genetic variant will allow research teams todevelop a targeted genetic test to manage nonsyndromic hearing loss,empowering pet parents to make better, more educated health decisions fortheir pet.

About the nonsyndromic hearing loss study:

  • Researchers from University of Helsinki and Wisdom Health Genetics conducted a study of nonsyndromic hearing loss, discovering a rare genetic variant in LOXHD1 associated with an autosomal recessive congenital nonsyndromic hearing loss in Rottweilers—the first of its kind related to nonsyndromic hearing loss.
  • Though the exact mechanism by which the LOXHD1 variant causes hearing loss remains unknown, the gene is essential for cochlear hair cell function and is also associated with nonsyndromic hearing loss in humans and mice.
  • The researchers made this discovery using a combination of homozygosity mapping and genome sequencing, and obtained confirmation for its relevance through screening more than 800,000 dogs from DNA samples obtained at Banfield™ Pet Hospitals. The rare LOXHD1 variant was found in both purebred Rottweilers and mixed-breed dogs with Rottweiler ancestry at low allele frequencies.
  • The characterized nonsyndromic form of hearing loss in dogs is clinically and genetically similar to the condition in humans, and therefore, provides a large animal model for its study. Likewise, Rottweilers will benefit from the development of a genetic test to manage this LOXHD1 -related hearing disorder in the population.

Previous Be Careful What You Claim

Next RSPCA NSW welcomes tougher penalties for animal cruelty offences