THE KENNEL CLUB GENETICS CENTRE ANIMAL HEALTH TRUST

Curly Coat Syndrome and Episodic Falling in Cavalier King Charles Spaniels in the UK Mutation Frequency Study Report - June 2012

In 2012 scientists at the Kennel Club Genetics Centre at the Animal Health Trust undertook a study to measure the frequency of the mutations responsible for congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (curly coat syndrome) and episodic falling in Cavalier King Charles Spaniels in the UK. A report describing the study, its conclusions and recommendations has been distributed to the UK Cavalier Breed Clubs and is available on the Animal Health Trust website

http://www.aht.org.uk/cms-display/genetics_success.html

We tested 280 DNA samples from Kennel Club registered Cavaliers and used the results to calculate the frequencies of these two mutations in the breed as a whole. Our results show that 19.1% of Cavaliers are carriers of the episodic falling mutation and 10.8% are carriers of the curly coat syndrome mutation. Both mutations are present in UK dogs of all four coat colours.

Almost 30% of UK Cavaliers of breeding age are carriers of episodic falling or curly coat syndrome, and a small number are carriers of both. Around 1-2% of Cavaliers carry two copies of the episodic falling and/or the curly coat syndrome mutation and are affected.

Our recommendations based on these results are as follows:

All Cavalier King Charles Spaniels that are to be bred from should be DNA tested for both mutations prior to mating, regardless of colour or ancestry

When planning a litter, breeders should choose a dog and bitch that cannot combine to produce affected puppies

Carriers should not be excluded from breeding programmes until the mutation frequency within the breed falls below 0.01 (1%) to avoid reducing genetic diversity unduly

Progress towards elimination of these two inherited diseases from the breed should be monitored by carrying out further mutation frequency checks every few years

The research team is grateful to the committees and members of all the Cavalier Breed Clubs for their help with our study. We hope that this research will be helpful to all Cavalier breeders and owners.

For further enquiries please contact Lou Hayward at: [email protected]



Diana Brook-Ward


Re-publishing the Scanning results, it has been decided to refer the matter to the Genetics & Health Screening Sub-Group for discussion at the next meeting scheduled for 20th May. In order to have as much information available as possible for this discussion, it would be useful if as much club feedback was delivered back to me before that meeting date as possible.

Cavalier Club ‘Delighted’ with new DNA tests.

Scientist working in the Kennel Club Genetics Centre at the Animal Health Trust has identified the mutation responsible for causing dry eye and curly coat syndrome and episodic falling in cavaliers.

Episodic falling is neurological condition induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over, scientists say.

Affected dogs usually start to demonstrate clinical signs before they are a year old, with most having their first episode aged between four and seven months of age.

This study was undertaken in collaboration with Professor Jacques Penderis from the Glasgow School of Veterinary Medicine, who diagnosed many of the dogs who contributed to the study.

We now have a real chance to eradicate dry eye and curly coat, which is fantastic news for anyone involved in cavaliers.

PhD student Oliver Foreman, who analysed more than five million letters of DNA from dogs affected with the two diseases, identified the mutations. By identifying the genetic mutations responsible for causing these conditions, the AHT has been able to develop DNA tests to identify carriers.

Charitable Trust chairman Mike Townsend said ‘Every dog deserves to lead a healthy, happy life and this breakthrough will make a real difference to the future health of cavaliers’.


Cavalier Club ‘Delighted’ with new DNA tests.


Scientist working in the Kennel Club Genetics Centre at the Animal Health Trust has identified the mutation responsible for causing dry eye and curly coat syndrome and episodic falling in cavaliers.

Episodic falling is a neurological condition induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over, scientists say:-

Affected dogs usually start to demonstrate clinical signs before they are a year old, with most having their first episode aged between four and seven months of age.

This study was undertaken in collaboration with Professor Jacques Penderis from the Glasgow School of Veterinary Medicine, who diagnosed many of the dogs who contributed to the study.

We now have a real chance to eradicate dry eye and curly coat, which is fantastic news for anyone involved in cavaliers.

PhD student Oliver Foreman, who analysed more than five million letters of DNA from dogs affected with the two diseases, identified the mutations. By identifying the genetic mutations responsible for causing these conditions, the AHT has been able to develop DNA tests to identify carriers.

Charitable Trust chairman Mike Townsend said ‘Every dog deserves to lead a healthy, happy life and this breakthrough will make a real difference to the future health of cavaliers’.

(Full report in Dog World 8 April 11)


Results of CM/SM BVA/KC Scheme

Total vote 63 from about 270 Yes 46; NO 17.

From

Yes: 23

Yes with comments:23

YES Comments include

a) 12 - want pre scheme scans included.

b) 3 - want publication of all results.

c) 1 - wants opt in for publication on KC registration

d) 1 - has to be consistency/ agreement in grading/scan interpretation.

e) 2 - as a breed club we must protect our breed.

f) 1 - this will support the EBV scheme, anything more will jeapardise the schem-.

g) 1 - not understand the implications as no longer breeding.

h) 1 - a responsible proposal by a responsible club

i) 1 - need to target non club members who are the majority of breeders who register with the Kennel Club.

NO: 8

NO with comments: 9

NO Comments include:

a) Not enough known yet about this problem & those already tested should be entered 'previously tested' before data of scheme comes into force

b)This is inexact science- you are screening to reduce the gene pool and breeding from" Clear Screen" dogs cannot guarantee clear offspring

c)Not enough evidence available yet.

d) Agree with part but not all,but full results required

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The Kennel Club

Making a difference in dogs

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A new scheme for Syringomyelia in the Cavalier King Charles Spaniel, the Griffon Bruxellois and the King Charles Spaniel has now been developed and will be launched shortly. The scheme provides a standardised set of protocols for the taking and evaluation of MRI scans and will be used to evaluate individual dogs. Each dogs MRI scan will be independently evaluated by two experts who agree an overall grade for the dog. The scheme will have a chief scrutineer who will, amongst other things, serve as a source of an appeal should a grading be challenged.

The Kennel Club and the veterinary cardiologists involved in breed-specific heart screening are also discussing the development of a further BVA/Kennel Club scheme for inherited heart disease in a number of different breeds

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