Familial Nephropathy (FN)

Late in 2006 a new DNA test for FN was developed by Dr. Lee's and his team at the A & M University in America, became available to locate the gene mutation for this disease.  This is a major breakthrough for the health of the Cocker Spaniel.

 

Dr. Lees has stressed that " with WISE use of the test, using carriers on clears is OK " (quote).  He emphasised how the test will enable us to rid our lines of the possibility of producing affected animals in just one generation, and how it is important not to lose quality within the gene pool whilst eradicating the disease. As in any hereditary disease, an animal who is a carrier is physically normal, and will not be at risk of producing the condition in the future if breeding is controlled (by only mating to a clear animal). Use of the test gives us the opportunity to prevent the death of dogs from FN.

 

FN is inherited as a recessive trait. This means a disease gene must be inherited from each parent in order to cause disease in an offspring.  A carrier has one disease gene and one normal gene, and is termed “heterozygous” for the disease. A normal dog has no disease gene and is termed “homozygous normal” – both copies of the gene are the same. And a dog with two disease genes is termed “homozygous affected” – both copies of the gene are abnormal.

 

Although FN is inherited, it can be avoided in future generations by testing dogs before breeding. Identification of dogs that do not carry disease genes is the key. These "clear" dogs can be bred to any mate.  With a "clear " x "clear" mating all the offspring will be "Homozygous Normal", with a "carrier" x " "clear" mating, 50% of the offspring will be "carriers" and 50% "clear".  Any puppies from this combination will need to be tested prior to breeding to ascertain their status and a safe mating planned.

 

For more information about FN, please click here!

 

OptiGen/Antagene - FN Test

 

The OptiGen/Antagene FN test is a DNA-based test that accurately diagnoses a fatal kidney disease that occurs in cocker spaniels.  The test also detects CARRIERS of this disease and clears dogs that are genetically NORMAL.
 
Familial Nephropathy (FN) has been referred to in several ways: kidney failure, fatal renal disease, juvenile nephropathy, renal cortical hypoplasia, hereditary nephritis (HN), Autosomal Hereditary Recessive Nephropathy (AHRN) in canines and Alport's Syndrome in humans.

FN is inherited in an autosomal recessive pattern in the cocker spaniel. This means the gene mutation responsible for FN is located on an autosome (that is, a chromosome that is not a sex chromosome) and FN disease results when the gene mutation is passed to the offspring by both the mother and the father.

FN disease is a juvenile-onset fatal kidney (renal) failure recognized in cocker spaniels worldwide for more than 50 years. The renal disease caused by FN invariably is progressive and ultimately fatal; however, the rate of disease progression observed in affected dogs is more rapid in some individuals than in others.

Dogs with FN typically develop chronic renal failure between 6 months and 2 years of age, with eventual and sometimes rapid destruction of both kidneys. The early clinical signs are the same as those associated with chronic renal failure due to any other cause. These include excessive water consumption, excessive urine volume, reduced growth rate or weight loss, poor quality hair coat, reduced appetite, and vomiting. Persistent high levels of protein in the urine of a young cocker spaniel most often proves to be due to FN.
 
Early in the disease course, a diagnosis can be difficult. Definitive clinical diagnosis can require examination of kidney tissue after death. The FN genetic test solves this problem immediately since presence of the FN gene mutation is accomplished by testing a DNA sample. This result gives the owner immediate diagnostic information and aides in making decisions for the affected dog and for breeding strategies.

Two companies are licensed to perform the DNA FN test, OptiGen in the US and Antagene in Europe.  Only dogs previously tested by OptiGen for prcd-PRA may use the OptiGen FN test, all other dogs resident in the UK may only use the Antagene FN test.

Because the OptiGen/Antagene FN test is a mutation-based gene test, it accurately and specifically identifies normal dogs, carriers (heterozygous dogs) and affected's.

 

To date, no Powerscourt dog has sired FN or any bitch produced puppies affected with FN.  The careful examination of pedigrees, with safe mating's planned has helped us ensure our dogs/puppies are free of FN, however this has always been a "by the grace of God" system and we are now delighted that a DNA test is available. 

 

Our dogs were the first UK resident dogs to be tested  by OptiGen for FN and in early January 2007 we were delighted to receive "Normal" FN test results for all our previously tested prcd-PRA OptiGen tested dogs!

 

Breeding Strategies

 

Possible results using the FN test

Genotype Risk Group Significance For Breeding Risk of FN Disease
N=  Homozygous Normal Normal/Clear Can be bred to any dog. Will never produce affected pups. Will never develop FN
 C = Heterozygous Carrier Should be bred only to Clear to remove risk of producing affecteds Will never develop FN
A = Homozygous Mutant Affected Shouldn't be bred from due to the strain on the kidney's during pregnancy.  Also unlikely to still be alive at an appropriate age for reproduction. Will develop FN/has FN

 

Expected results for breeding strategies using the FN test

Parent 1
Status
Parent 2 Status
Clear Carrier Affected
N = Normal/Clear All = Clear 1/2 = Clear 
1/2 = Carrier
All = Carrier
C= Carrier 1/2 = Clear
1/2 = Carrier
1/4 = Clear
1/2 = Carrier
1/4 = Affected
1/2 = Carrier
1/2 = Affected
A = Affected All = Carrier 1/2 = Carrier
1/2 = Affected
All = Affected

 

OptiGen/Antagene - FN Test Results

OptiGen began testing in January 2007 & Antagene began testing in February 2007.

In early January 2007 we were delighted to receive "Normal" test results for our previously OptiGen tested dogs, from these results we were also able to determine which of our dogs are genetically "Normal" for FN,  the results are shown below:

Only dogs forming part of our current breeding programme are listed here, for all results please see the individual dogs own pages.

Name:

Details:

Result:

Powerscourt Enchantress - Buttons

Genotype Normal via parentage

Homozygous Normal

Powerscourt Higher Echelon - Toby

OptiGen Test - 22/01/07

Homozygous Normal

Powerscourt Paint Splash - Tiggy

OptiGen Test - 18/01/07

Homozygous Normal

Powerscourt Perdita - Purdie

OptiGen Test - 18/01/07

Homozygous Normal

Powerscourt Perfect Gift - Maddie

OptiGen Test - 18/01/07

Homozygous Normal

Powerscourt Perfect Love - Minty

Genotype Normal via parentage

Homozygous Normal

Powerscourt Perfect Magic - Dudley

Genotype Normal via parentage

Homozygous Normal

Powerscourt Pingu - Stan

Genotype Normal via parentage

Homozygous Normal

Powerscourt Pippi's Gift - Katie

OptiGen Test - 18/01/07

Homozygous Normal

Powerscourt Power Of Love JW - Lottie

OptiGen Test - 18/01/07

Homozygous Normal

Powerscourt Precious Gift - Kea

Genotype Normal via parentage

Homozygous Normal

Powerscourt Precious Simba - Megan

Genotype Normal via parentage

Homozygous Normal

Powerscourt Prelude - Henry

Antagene Test - 21/05/07

Homozygous Normal

Powerscourt Pure Love - Willow

Antagene Test - 21/05/07

Homozygous Normal

Powerscourt Pure Silk - Sophie

Genotype Normal via parentage

Homozygous Normal

Powerscourt Spice Of Life - Rosie

OptiGen Test - 18/01/07

Homozygous Normal

Riondel Venture to Powerscourt - Archie

OptiGen Test - 15/01/07

Homozygous Normal

Spendles Spinnet of Powerscourt - Tilly

OptiGen Test - 18/01/07

Homozygous Normal

Wakehurst Playboy - Fudge

Antagene Test - 21/05/07

Homozygous Normal

For a list of results for all dogs (all Cocker Spaniels, not just Powerscourt cockers) tested  please click here! Please note, the results currently listed for our dogs are only the results of dogs still connected to our breeding programme and have been submitted voluntarily).  From the 1st July the Kennel Club will automatically update the list with test results.

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