Archives for December 2014

Primary Hyperoxaluria: A Preventable Inherited Disease of the Coton de Tulear

Primary Hyperoxaluria: A Preventable Inherited Disease of the Coton de Tulear

There are not many dog breed names that give a more apt description of the breed’s physical appearance than that of the coton de Tulear. Taken from the French word “coton”, meaning cotton, the coton de Tulear’s signature soft white hair (not fur) has long been compared to the fluffy fiber of the cotton plant. According to the Malagasy Coton de Tulear Club of America, the coton de Tulear was developed in Madagascar around the 17th century and is still the official dog of this island nation. Predecessors to the modern coton de Tulear were likely brought to the island by sailors or pirates around this time period. Though they are generally a healthy breed, unfortunately, like other purebred dogs, the coton de Tulear is known to inherit some genetic diseases that can make life challenging for this small, friendly companion and those that love them. One such inherited disease of the coton de Tulear is a severe condition known as primary hyperoxaluria (PH) that occurs due to a mutation in the AGXT gene.

Dogs affected with PH lack the ability to produce an enzyme that plays an essential role in the breakdown of a compound known as glyoxylate ...

Testing for Progressive Retinal Atrophy, GR1 and GR2 Now Available for the Golden Retriever

Testing for Progressive Retinal Atrophy, GR1 and GR2 Now Available for the Golden Retriever

After many inquiries by our wonderful clients, Paw Print Genetics is excited to announce that we have begun testing for two genetic mutations reported to cause progressive retinal atrophy in the golden retriever. Known specifically as progressive retinal atrophy, GR1 and GR2 (PRA-GR1 and PRA-GR2), these two diseases were found to be caused by genetic mutations in the SLC4A3 and TTC8 genes, respectively. In addition to the golden retriever, the TTC8 mutation that causes PRA-GR2 has also been identified in a clinically affected Labrador retriever.

Progressive retinal atrophy (PRA) is not a single disease, but rather a group of inherited diseases each caused by different genetic mutations in different genes. The various forms of PRA affect over 100 different dog breeds. Though there are variations in the progression of disease, most varieties of PRA (regardless of genetic cause) result in blindness due to an inherited degeneration of the retina; more specifically, the degeneration of retinal cells known as rods and cones, which play an important role in vision.

In PRA-GR1 and PRA-GR2, signs of night blindness and loss of peripheral vision are seen first with progression to complete blindness occurring over time. In addition, they are both considered late onset ...

Hereditary Cataract Testing Has Arrived at Paw Print Genetics!

Hereditary Cataract Testing Has Arrived at Paw Print Genetics!

One of the hottest questions from our loyal, Paw Print Genetics clients over the past several months has been, “When are you going to offer genetic testing for hereditary cataracts?” After much preparation and anticipation, we are happy to report that Paw Print Genetics has begun testing for two different mutations of the HSF4 gene reported to cause hereditary cataracts (HC) in seven different breeds of dog.

Cataract is the term used to describe a condition in which opacities develop in the normally clear lens of the eye. The lens is responsible for focusing light onto the retina in the back of the eye resulting in acute, focused vision. With cataracts, the lens cannot focus light appropriately. This results in progressive vision deficits as the cataract increases in severity. While many cataracts identified in dogs are caused by non-inherited causes (e.g. UV radiation, infections, diabetes, chronic inflammation of the eye), as the name suggests, HCs are those passed from generation to generation. In addition, inherited genetic mutations are the most common cause of cataracts in dogs. However, by performing genetic testing on dams and sires prior to breeding, selective breeding precautions can be taken to prevent affected puppies ...

Progressive Retinal Atrophy (PRA1): A Preventable Inherited Disease of the Papillon and Phalène

Progressive Retinal Atrophy (PRA1): A Preventable Inherited Disease of the Papillon and Phalène

With their picturesque appeal, predecessors of the modern day papillon (known as continental toy or Titian spaniels) were popular subjects for European painters between the 16th and 18th centuries. The popularity of these small spaniels with European aristocrats and royalty of the Renaissance period, led to their appearance in many paintings from the era. The iconic, longhaired “butterfly-like” ears, for which papillons are named, are obvious in these paintings though many of the portrayed dogs were of the drop-eared variety of the breed that today is known as the phalène. According to an article on the Papillon Club of America website, in the late 19th century erect ears became a more desirable trait with papillon fanciers and eventually the erect-eared variety obtained their current position as the more popular form of the breed. In addition to their beautiful physical attributes, in their modern form, well-socialized papillons are described as happy, playful and affectionate family members. Papillons are also often described as frequent barkers, making them great guard dogs. Despite their adorable personalities and good temperament, like other purebred dogs, the papillon is known to inherit some genetic diseases that could prevent this regal breed from reaching the ...

Leukocyte Adhesion Deficiency: A Preventable Inherited Disease of the Irish Setter

Leukocyte Adhesion Deficiency: A Preventable Inherited Disease of the Irish Setter

From a thorough mixture of spaniels, pointers, and other setter breeds, the Irish setter made its rise to popular gun dog status in the 18th century in its native homeland, Ireland. Though originally of the red and white color pattern (now called the Irish red and white setter), by the time the Irish setter made its way to North America, the solid red color most commonly associated with the breed had been established through selective breeding practices. Originally bred for their versatility in hunting game birds, by the mid 1900’s the Irish setter’s role in the field had greatly diminished despite their popularity in the show ring. Controversial, yet successful, efforts were taken to outcross the breed to red and white champion English setters in order to preserve and improve field varieties. The resultant field variety, often referred to as the Red setter, is unique in its hunting abilities and appearance when compared to American show varieties of the Irish setter. However, the field variety still falls under the Irish setter name in the US.

Unfortunately, at some point during the breed’s development, a spontaneous mutation in the ITGB2 gene occurred in a single Irish setter. A portion of ...