MyDogDNA Research Update: Novel Carrier Findings in Lagotto Romagnolo, Papillon, Brazilian Terrier and Danish-Swedish Farmdog breeds

Comprehensive panel testing of genetic mutations known to underlie canine inherited disorders offers an efficient and powerful opportunity to screen for presence of mutations across breeds. This enables discovery of previously unreported mutations in breeds that would not necessarily have been screened for the mutations otherwise. However, whether these mutations actually manifest similarly as described in the original breeds requires always further scientific investigation in the new breeds involving clinical characterization of genetically affected individuals.

Further investigations on several mutations and disease conditions are now ongoing by the MyDogDNA research team. To the best of our knowledge, the carrier findings announced below are novel. However, they are as of yet based on identification of a limited number of carriers. In each case, we invite dog owners, breeders and breed clubs to pursue further genetic testing to examine whether these are widespread mutations in the breed or individual occurrences.

Moreover, for clinical validation studies of the impact of the mutations, it is important to identify genetically affected dogs, and investigate whether the particular mutation leads to a similar phenotype as described in the original breeds the mutation was characterized in. It is important to notice that a newly discovered mutation cannot be called a disease-causing mutation in the new breed before a validation study has been completed. The MyDogDNA team actively coordinates such validation projects in collaboration with veterinarians and researchers.

Novel carrier findings by the MyDogDNA research team (October 2013)

Hyperuricosuria or Urolithiasis (HUU) in Lagotto Romagnolo

Urinary tract / Kidney disorder that may manifest as:

  • Potentially painful formation of uric acid crystals in the urinary tract
  • Frequent urination, difficulties urinating, blood in urine
  • Urinary tract infections
  • General weakness, fatigue, loss of appetite or vomiting

Multifocal retinopathy (cmr1) in Brazilian Terrier

Eye disorder that may manifest as:

  • Retinal changes visible on ophtalmology (elevation-like lesions due to accumulation of pink-tan fluid, retinal wasting away)
  • Vision impairment
  • Blindness

Canine Factor VII Deficiency (cFVII) in Papillon

Bleeding disorder that may manifest as:

  • Mild to moderate excessive bleeding due to prolonged coagulation time
  • May go completely unnoticed until trauma or surgery reveals prolonged bleeding time
  • Bruises, body cavity-, nose- or vaginal bleeding

Primary Lens Luxation in Danish-Swedish Farmdog

Eye disorder that may manifest as:

  • Dislocation/detachment of the lens of the eye due splitting of zonular fibers
  • Signs of irritation or inflammation of the eye, such as excessive blinking, tearing, or twitching
  • Secondary complications that lead to vision loss, such as glaucoma and cataracts

If you have a dog of the breeds above that has manifested the listed symptoms, or has relatives exhibiting symptoms, we encourage you to pursue genetic testing with us to help understand the potential role of the corresponding mutations within your breed. Any tested dog of the corresponding breeds, even if not showing symptoms, will help us work towards understanding the prevalence of these mutations in the breed. Please do not hesitate to contact us at info@mydogdna.com for more information, and to let us know if you have experience or knowledge of the symptoms listed above within your breed.

Takaisin