PHPT
The newly opened Kennel Club Genetics Centre (KCGC) have settled into the Department of Veterinary Medicine at the University of Cambridge and the team, led by Dr Cathryn Mellersh, now has a full complement of 9 members, all of whom have come from the Animal Health Trust
They now have a brand new website at www.canine-genetics.org.uk. where they list their current research areas as : Inherited Eye Diseases – such as Glaucoma, Progressive Retinal Atrophy (PRA), Primary Lens Luxation (PLL) etc. Neurological Disorders – such as Idiopathic Epilepsy & Paroxysmal Dyskinesia. Congenital hepatic fibrosis in Skye Terriers and last but not least - Primary Hyperparathyroidism (PHPT) in Keeshonds.
Primary Hyperparathyroidism (PHPT) in Keeshonds presents a slightly unusual obstacle in that a DNA test has been available in the USA for a number of years. However, the research underlying that mutation has never been published in a peer-reviewed scientific journal, and the test is only available from a single lab. As such, breeders and scientists really have no way of knowing what they are actually testing for, and the process of testing is more laborious and costly than it could be. Working alongside Dr Barbara Skelly (University of Cambridge), our aim is to independently identify the genetic variant(s) that cause or contribute to PHPT in the breed, develop a DNA test in collaboration with Canine Genetic Testing and publish the research in a peer-reviewed publication; thereby enabling other DNA testing labs to offer the test should they wish to.
Full information on PHPT in the breed, research and how you can report an affected Keesie can be found by visitng:
In May the Kennel Club released the following statement:
The Kennel Club has announced that following consultation with the Keeshond Breed Health Coordinator on behalf of the breed clubs, the regulation that all imported Keeshonds, or overseas dogs being imported into the UK breeding programme, must be DNA tested for primary hyperparathyroidism (PHPT) before registration of progeny, has been placed on-hold. The reasoning behind this is that there is no peer-reviewed scientific literature providing the details of the mutation tested for, or details of the association between the mutation and the phenotype, and so the validity of the DNA test with clinical disease is not fully understood. Lack of this crucial information does not align with The Kennel Club’s updated DNA test auditing system.
As such, the test will also be removed as a requirement from Assured Breeders of Keeshonds in line with the new schedule update (expected Summer 2023), and the import restriction will be lifted with immediate effect. Test results will continue to be added to the dog’s registration details which will trigger the publication of the result in the next available Breed Records Supplement, and also on the Health Test Results Finder on The Kennel Club website.
PHPT results from an inappropriate and excessive secretion of parathyroid hormone (PTH) into the blood. As a result of this, calcium levels rise above normal levels, which if undetected, can lead to too much calcium within the body, causing clinical signs such as muscle weakness, tiredness, excessive urination/ thirst, lower urinary tract problems, weight loss, and vomiting. In the majority of affected animals, clinical signs are not evident until later in life, often after the point at which a dog would be used for breeding.
This condition is rare in the UK breed population, however it is acknowledged that imported dogs may have the potential to rapidly reintroduce disease, which was the basis for the initial introduction of the clause. Given the very small global population size of this breed, making use of breeding animals from a range of countries of origin is essential in an attempt to conserve genetic diversity