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Health tests carried out on our

Gordon Setter

All our parents are healthy

Hereditary (juvenile) ataxia

Gene involved : RAB24

Transmission mode :

Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but they are carriers and can transmit the mutation to their offspring .

Mutation :

Substitution, RAB24 ; c.113 A>C, exon1

Races :

Old English Sheepdog/English Shepherd/Bobtail, Gordon Setter

Age of onset of clinical signs :

Variable, between 6 months and 4 years

Hereditary ataxia is a progressive disease that develops over several months or even years and mainly affects Bobtails and Gordon Setters from the age of 6 months to 4 years.  The Purkinje fibers of the cerebellum are mainly affected.  Clinical signs include lack of coordination in movements, lack of balance, tense posture, head tremors and legs and difficulty finding one's bearings in space.  Animals end up not being able to climb stairs, or even stand up.

References :

Agler C, Nielsen DM, Urkasemsin G et al. (2014) Canine hereditary ataxia in Old English Sheepdogs and Gordon Setters is associated with a defect in the autophagy gene encoding RAB24. PLOS Genetics 10(2):e1003991. [pubmed/24516392]

Cellules souches embryonnaires

Degenerative Myelopathy (DM) (SOD1)

Gene involved : SOD1

Transmission mode :

HASutosomal recessive, incomplete penetration.

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but they are carriers and can transmit the mutation to their offspring .

Mutation :

Substitution, SOD1 ; c.118 G>A, exon2

Breeds :

Airedale Terrier, American Hairless Terrier, American Pit Bull Terrier, American Staffordshire Terrier/Amstaff, Australian Kelpie, Borzoi, Beagle, German Shepherd, Miniature American Shepherd, Australian Shepherd, Miniature Australian Shepherd, Toy Australian Shepherd, Belgian Shepherd Groenendael, Belgian Shepherd Laekenois , Belgian Shepherd Malinois, Belgian Shepherd Tervueren, White Swiss Shepherd, Anatolian Shepherd, Shetland Shepherd, Finnish Lapland Shepherd, Dutch Shepherd, King Shepherd, Picard Shepherd, Bichon Frize, Biewer Terrier, Bluetick Coonhound, Border Collie, Border Terrier, American Bulldog, English Bulldog, French Bulldog, Australian Mountain Dog, Australian Short Tailed Mountain Dog, Bernese Mountain Dog, Boxer, German Shorthaired Pointer, German Wirehaired Pointer, Bullmastiff, Miniature Poodle, Medium Poodle, Standard Poodle, Toy Poodle , Pug, Pug Pinscher, Chinese Crested Dog, Friesian Pointing Dog, American Water Dog, Canaan Dog, Pyrenean Mountain Dog, Rhodesian Ridgeback Hound, St. Hubert Hound, Pharaoh Hound, St. Bernard Hound, Finnish Lapland Hound, Catahoula Leopard Hound, Peruvian Hairless Hound, Swedish Lapland Hound, Saarloos Wolfhound, Czechoslovakian Wolf, Chow-chow, Clumber Spaniel, Collie, Shorthaired Collie, Longhaired Collie, Coton de Tulear, Dalmatian, Decker Terrier, Dobermann Pinscher, Dogo Argentino, English Coonhound, English Toy Spaniel, Boykin Spaniel, Cavalier King Spaniel Charles, American Cocker Spaniel, English Cocker Spaniel, English Springer Spaniel, Tibetan Spaniel, American Eskimo, Eurasier, Fox Terrier, Wire Fox Terrier, Smooth Fox Terrier, Miniature Fox Terrier, Toy Fox Terrier, American Foxhound, Golden Retriever, Wirehaired Pointing Griffon Korthals, Harrier, Hovawart, Siberian Husky, Jack Russell Terrier, Komondor, Koolie, Kuvasz, Labrador Retriever, Laika, Lancashire Heeler, Landseer, English Greyhound, Silkie Hound, Greyhound Irish Greyhound Persian, Whippet, Lucas Terrier, Alaskan Malamute, Maremma Sheepdog, English Mastiff, Mountain Cur, Norfolk Terrier, Norwich Terrier, Old English Sheepdog/English Shepherd/Bobtail, Olde English Bulldogge, Parson Russell Terrier, Patterdale Terrier, German Pinscher , Plott Hound, Portuguese Podengo, English Pointer, Pomeranian/Miniature Spitz, Puli, Pumi, Rat Terrier, Flat-Coated Retriever, Chesapeake Bay Retriever, Nova Scotian Retriever, Rottweiler, Russell Terrier, Samoyed, Scandinavian Hound , Giant Schnauzer, Medium Schnauzer, Miniature Schnauzer, Sealyham Terrier, Gordon Setter, Irish Setter, Irish Red and White Setter, Shih Tzu, Shiloh Shepherd, Finnish Spitz, Wolf Spitz / Keeshond, Staffordshire Bull Terrier, Tamaskan, Teddy Roosevelt Terrier, Earth Newborn, Australian Terrier, Australian Silky Terrier, Boston Terrier, Irish Terrier, Irish Soft Coated Terrier, Kerry Blue Terrier, Tenterfield Terrier, Tibetan Terrier, Treeing Walker Coo nhound, Wachtelhund / German Oysel Dog, Welsh Corgi Cardigan, Welsh Corgi Pembroke, Welsh Terrier, Yorkshire Terrier

Age of onset of clinical signs :

On average at age 9

Degenerative myelopathy (DM) is a neurological disease that is present in several dog breeds, but at varying levels depending on the case.  This disease is not yet very well documented depending on the breed dogs so far.   It is a condition that affects the white matter of the spinal cord and is equivalent to amyotrophic lateral sclerosis in humans.  Usually affected individuals initially show progressive muscular atrophy with loss of coordination in the pelvic limbs. become paraplegic.  Dogs lose their ability to move 6 to 24 months after the onset of clinical signs.

References:

OMIA Link [000263-9615]

Awano T, Johnson GS, Wade CM, Katz ML et al. (2009) Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. PNAS 106(8), 2794-2799. [pubmed/19188595]

Zeng R, Coates JR, Johnson GC et al. (2014) Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28(2):515-521. [pubmed/24524809]

Coates JR, Wininger FA. (2010) Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. 40(5):929-50. [pubmed/20732599]

Crisp MJ, Beckett J, Coates JR, Miller TM. (2013) Canine degenerative myelopathy: biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model. Exp Neurol. 248:1-9. [pubmed/23707216]

Holder AL, Price JA, Adams JP, Volk HA, Catchpole B. (2014) A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK. Canine Genet Epidemiol. 1:10. [pubmed/26401327]

Turba ME, Loechel R, Rombola E et al. (2017) Evidence of a genomic insertion in intron 2 of SOD1 causing allelic drop-out during routine diagnostic testing for canine degenerative myelopathy.  Animal Genetics 48(3):365-368. [pubmed/27917507]

Microscope

Neuronal ceroid-lipofuscinosis 8 (NCL-8) (Setters)

Gene involved : CLN8

Transmission mode :

Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but they are carriers and can transmit the mutation to their offspring .

Mutation :

Substitution, CLN8 ; c.4911 T>C, exon2

Breeds :

English Setter, Gordon Setter, Irish Setter, Irish Red and White Setter

Age of onset of clinical signs :

Around the age of 14 to 18 months

Neuronal ceroid-lipofuscinosis 8 is a lysosomal storage disease that affects Setters.  Affected individuals show dysfunction of an enzyme necessary for normal cell metabolism._cc781905-5cde-3194-bb3b -136bad5cf58d_ There is then an accumulation of metabolic waste in the cells and the nerve cells are particularly affected.  The animals develop neurological clinical signs around the age of 14 to 18 months such as lethargy, ataxia, convulsions and blindness.  There are also behavioral changes such as aggression, lack of interest in playing with other dogs, lack of response to commands, fear and hallucinations.  Affected animals either die from convulsions or are euthanized usually before 2 years of age.

References:

Koppang N. (1992) English setter model and juvenile ceroid-lipofuscinosis in man. Am J Med Genet. 42(4):599-604. [pubmed/1609842]

Katz ML, Khan S, Awano T et al. (2005) A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Comm 327:541-547. [pubmed/15629147]

Test sanguin

PRA-RCD4

Gene involved : C2orf71

Mtransmission code :

Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but they are carriers and can transmit the mutation to their offspring .

Mutation :

Insert, C2orf71 ; c.3149 ins.C

Breeds :  Miniature Poodle, Medium Poodle, Standard Poodle, Toy Poodle, English Setter, Gordon Setter, Irish Setter, Irish Red and White Setter

Age of onset of clinical signs :

Around the age of 10

Progressive retinal atrophy (PRA) refers to a group of diseases affecting the retina which involves the degeneration of cone and rod cells.  PRA -CRD-4 is a late disease for which the clinical signs appear only around the age of 10 years even if the changes in the retina can be observed on the ophthalmic examination from the age of 3 years._cc781905-5cde-3194 -bb3b-136bad5cf58d_ The rods (weak light receptors) are the first cells to be affected so the animal will therefore start by losing its night vision and its peripheral vision.  The disease progresses gradually to affect the cones (color receptors) and the animal ends up losing day sight too and finally going blind.

References :

OMIA Link [1575-9615]

Downs LM, Bell JS, Freeman J, Hartley C, Hayward LJ, Mellersh CS (2013) Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Animal Genetics 44(2):169-177. [pubmed/22686255]

Downs LM, Hitti R, Pregnolato S, Mellersh CS (2014) Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds.  Vet Ophthalmol. 17(2):126-30. [pubmed/29255994]

Palanova A. (2016) The genetics of inherited retinal disorders in dogs: implications for diagnosis and management.  Vet Med (Auckl). 7:41-51. [pubmed/30050836]

Karlskov-Mortensen P, Proschowsky HF, Gao F, Fredholm M. (2018) Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Animation Genet. 49(3):237-241. [pubmed/29624701]

Laboratoire scientifique
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