Genetic Disorder-- Lupis

[jkonkel]

My Daisy has been diagnosed with a form Lupoid Dermatosis Usually only associated with GSP's.

http://www.fetch.org.za/lupoid-dermatosis

 It presents in Daisy as skin sores and a wheezing cough. She also has a musty smell when she has a breakout. I know of two other Bourbonnais with symptoms and several testing as carriers. 

I have posted more information and pictures on Facebook

https://www.facebook.com/groups/115197368655430/permalink/545828105592352/

This is a genetic disorder and Genetic testing is available at Penn state University. There have been a few dogs tested and some US breeders are testing their breeding stock.  The tests so far suggest that carrier dogs trace back to French dogs imported to the US.

If anyone would like more information or has a symptomatic Dog, please look at the Facebook post or contact me

jkonkel@skslawyers.com

Jerry konkel

[mic_comte]

 Hi Jerry,
Thanks for your information, we will pass it to the club. I guess we have to start testing dogs in France.

By the way, what is the pedigree name of Daisy?

Best regards
Michael

[Marc]

On connaît aussi des cas de dysplasie du coude, de sténose pulmonaire... Dont certains propriétaires nous on fait part. Il serait en effet temps que le club oriente davantage sa politique sur le dépistage de problèmes de santé ça devient urgent.
Quand à la dysplasie de la hanche, une étude va bientôt aboutir pour savoir si elle est "accidentelle" ou génétique. Ce sera bien, surtout dans les races à faible effectif, ça évitera de passer à côté de grands chiens qui peuvent vite avoir de petits soucis sans gravité et surtout non transmissibles tout ça parce qu'ils ont chassé trop jeune, trop longtemps, en montagne...

[jkonkel]

Michael

Daisy is Kalli Chasseur du Aspen Ridge. Her Sire tests as clear. Her Mother is a carrier as is her maternal grandfather Elk Run Quiggly. His parents are French imports and to the best of my knowledge have not been tested.  He maternal Grandmother tests clear.

Penn State university (PennGenn) is the only testing lab in the states. I will email my contact there and see if they know of a lab in europe.   

[jkonkel]

Marc
 According to the experts, in this Lupis disorder the chance of a spontaneous genetic mutation is 10,000/1. Therefore the gene has almost certainly been passed through generations of dogs. Luckily a test for the Marker Gene is available. With testing carriers can be identified and eliminated from breeding. Excellent idea for the clubs to encourage screening for this and other health problems. 

[jkonkel]

PS

In this disorder, carriers almost always show no symptoms so testing is the only way to identify affected dogs before two carriers breed and have a litter of sick puppies.

[mic_comte]

 Indeed.
 What is astonishing in this case is that puppies show the disease with only one parent being the carrier. Some of those disease are "partially recessive", this could explain this. We have to ask advice from some experts here.

[Marc]

I will ask to Marc to see whith the Water Dog french Club because I know they could have this disease on the SWD. I will check that whith the Pdt.

[jkonkel]

I wrote Penn state vet school. They do not know of a lab doing this test in Europe. Owners of GSP's in europe send them the samples for testing.  The marker for this disorder will not be detected in a general genetic screening. Below is a link to the lab at Penn State,

http://research.vet.upenn.edu/Default.aspx?alias=research.vet.upenn.edu/Penngen

[urgane83]

Pour les francophones, un lien pour la fiche signalétique de la maladie traduite du site d'origine (Canine Inherited Desease Database de l'UPEI).
http://www.ecoledesmaitres.net/genetiquecanine/fiches_maladie_de_la_peau/dermatose_lupoide.html
Merci pour les infos.

Une remarque: Les recommandations d'élevage de la fiche datent de plusieurs années. Maintenant que le test est disponible, dans la mesure où les chiens parents d'un chien présentant des signes de la maladie sont testés négatifs ils peuvent bien entendus être utilisés en reproduction. Et les chiens dont les deux parents sont testés non porteurs sont considérés de facto comme non porteur par hérédité sans avoir à être testés .

[jkonkel]

Update on testing. My Lilly has tested as healthy (not a carrier). Urgane has a good point. The offspring of non carriers will not inherit the gene for the disease. However most carriers (one mutant gene) will not show signs of the disease and can pass the mutant gene to it's offspring. If two non symptomatic carries breed they can both pass the mutant gene and that offspring will suffer the full blown disease as in the GSP.

I am told that at least 3 breeders in the states are testing their dams and sires. If they share the results I will post here. If anyone in Europe is testing please share the results so perhaps the lines of carriers can be identified.   

[jkonkel]

My Daisy's test result attached.  She is a carrier and displays symptoms. She has been spayed.