Gene Discovered for Familial Nephropathy in English Cocker Spaniels


Familial Nephropathy (also known as Hereditary Nephropathy) is an autosomal recessive disease causing juvenile onset renal failure in the English Cocker Spaniel.  This fatal disease has plagued the English Cocker Spaniel breed for over 50 years.  Very similar to Alport syndrome in humans, Familial Nephropathy can be transmitted in three ways:  X-linked, autosomal dominant and autosomal recessive (as in the English Cocker Spaniel).  All three forms are caused by mutations in the type IV collagen genes, specifically the alpha 3, 4, or 5 chains.  These mutations cause glomerular thickening and splitting which eventually lead to renal failure.  In dogs, this causes death with in the first few years of life.

For both the human and dog, there is no cure, and renal transplantation is the only treatment.  Dr. Keith Murphy and Dr. George Lees at Texas A&M University have been studying Hereditary Nephropathy for over 10 years and are currently funded by the NIH to study gene therapy as a potential treatment.  In 2006, Ashley Davidson, a doctoral student in Dr. Murphy’s laboratory, identified the mutation causative for the autosomal recessive form of this disease in the English Cocker Spaniel.  That research will be published in 2007 in the Journal of Veterinary Internal Medicine.

A genetic test has been developed to identify not only puppies that are affected with this disease but carriers of the disease as well.  Proper use of the test and identification of carriers will help to eradicate the disease.  Starting in January 2007, Optigen LLC, will offer this test in the United States and Canada.  The test will also be offered in 2007 in Europe by Antagene, and in Australia, New Zealand and the Asia-Pacific region by GTG of Australia.


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