Golden Retriever Vol. 10, No. 1 ■ Fall 2012

Golden Retriever Ichthyosis May Be Underdiagnosed Due to Seborrhea Similarity

hen a scaling skin disorder first Ichthyoses are a diverse group of 2 years of age. The age of onset was showed up in Golden Retrievers hereditary, usually congenital, diseases unknown for eight dogs. Win the 1990s, it was frequently characterized by faulty formation of The wide age distribution reflects misdiagnosed as seborrhea, a condition the outer layer of the epidermis, the the subtle nature of the phenotype. 2 that also causes scaling and dandruff. stratum corneum, with resultant The challenge of determining an exact More than a decade later, veterinary scaling. 2,3,4 Skin biopsies have revealed age of onset is difficult as mild scaling specialists began studying the disorder two types of ichthyoses: epidermolytic could have been overlooked. Hereditary and realized it is specific to Golden ichthyosis (EI) and nonepidermolytic ichthyosis is often present at birth, Retrievers. More recently, geneticists ichthyosis (NI). but it is not uncommon for signs to identified the causative mutation Golden Retrievers develop the NI develop later in adulthood. and developed a direct DNA test to type, which also occurs in American “All the dogs had strikingly similar identify affected and carrier dogs. Bulldogs and Jack Russell Terriers though histopathologic changes consisting Fortunately, Golden Retriever in a more serious, yet not common, of mild to moderate hyperkeratosis, ichthyosis is seldom severe. The dis - form. Among the breeds that develop or thickening of the outer layer of skin, order is named for the Greek word EI are Norfolk Terriers, Rhodesian and an absence of epidermal hyper - ichthys, meaning fish, because it looks Ridgebacks and Labrador Retrievers. plasia, which is the proliferation of like fish scales. Breeders sometimes refer A University of Pennsylvania study normal cells, and dermal inflammation,” to the condition as “puppy dandruff” of 46 Golden Retrievers diagnosed Mauldin explains. “Environmental since puppies usually outgrow signs of with ichthyosis from January 2004 to factors including nutrition, supple - flaky skin as they mature, although January 2007 found that all the dogs ments, humidity, estrous cycle, and ichthyosis also occurs in adult dogs. had mild to moderate dry scaling with other skin conditions likely impacted Research in Goldens led to the discovery variable hyperpigmentation on their the degree of scale formation.” that the disorder is similar to one of abdomens. Large, loose scales ranging Electron microscopic analysis of the the human autosomal recessive con - from soft white to gray were described skin of five affected dogs compared genital ichthyoses (ARCI). as looking like snowflakes. with two normal control dogs showed An ongoing survey conducted by the “The dogs looked like walking snow crystalline structures in the outer layer Orthopedic Foundation for Animals in globes,” says Elizabeth Mauldin, D.V.M., of skin, the stratum corneum. Pedigree conjunction with the Golden Retriever associate professor of pathology and analysis of 14 dogs indicated that Club of America (GRCA) reports that dermatology at the University of Golden Retriever ichthyosis is an auto - ichthyosis accounts for 0.2 percent of Pennsylvania School of Veterinary somal recessive condition in which a skin disorders in the breed. “Overall, Medicine. “We documented that the dog inherits a copy of the mutated this is a very low percentage,” says dogs suffered from a primary disorder gene from both its sire and dam. Rhonda Hovan, the GRCA research of cornification, the process of making Not curable, ichthyosis is treated facilitator. “The percentage of affected scale in natural skin turnover. We with moisturizers and emollients to Goldens in this survey probably does determined that a skin biopsy can be provide palliative care. “Corticosteroids, not reflect how many dogs have the used to diagnose the disorder.” such as prednisone, do not improve disease, especially if the diagnosis is The 46 dogs in the study consisted skin condition and actually worsen the based on physical signs alone. It is of 25 females and 21 male Golden skin barrier,” explains Mauldin. “This likely that mild cases go undetected Retrievers. Twenty-two dogs had skin further impairs the body’s natural or ignored. It also is possible that lesions when they were younger than defenses and puts a dog at risk for ichthyosis is inadvertently diagnosed 1 year of age; three dogs developed secondary bacterial and possibly as seborrhea, which accounts for 0.9 the disorder between 1 and 2 years yeast infections.” percent of skin disorders.” of age; and 13 dogs were older than Continued on page 2

An Inherited Congenital Disorder Breeders Can Test Golden Retrievers for Ichthyosis Cindy Williamson of Harford County, Md., who breeds Golden Retrievers under direct DNA test to help identify Golden Retrievers that are carriers, the Lycinan prefix, describes unknow - affected or normal for ichthyosis is available through Antagene, a ingly breeding litters with ichthyosis A since 1992. “It was not diagnosed then diagnostic testing laboratory in La Tour-de-Salvagny, France. Ichthyosis is as ichthyosis,” she says. “The veterinar - a scaling skin disorder with an autosomal recessive inheritance. ian suggested it was ‘walking dandruff,’ The $120 genetic test can be performed from a cheek swab or blood sample. which is caused by mites, but the puppies Samples from Golden Retrievers in the U.S. should be sent to Optigen, a outgrew the condition and quit showing diagnostic testing laboratory in Ithaca, N.Y., which extracts the DNA and ships signs by 8 weeks of age. We called the it to Antagene for DNA testing. Results are available in three to four weeks. puppies ‘peelers’ because of their flaky The GRCA Health & Genetics Committee recommends prebreeding testing skin. We didn’t think much about it primarily for dogs that have clinical signs of ichthyosis and for dogs that because it went away and never per - have close relatives known to be carriers, affected or have clinical signs. sisted into adulthood.” Golden Retriever Ichthyosis ARCI,” says André. “The research trans - of the PNPLA1 gene mutation.” continued from page 1 lated well from Goldens to humans The GRCA Health & Genetics through collaborations with Dr. Judith Committee endorses this approach. Two other studies were simulta - Fisher, a specialist of human ichthyoses It also echoes Casal’s caution regarding neously performed on ichthyosis in from the Institute of Human Genetics unnecessarily reducing the genetic Golden Retrievers. The studies, which at Freiburg University in Germany. diversity that is so vital for long-term took place in England 3 and France, 4 Mutations in the PNPLA1 gene were breed health, Hovan says. concluded similar clinical and histo- identified in two human families Golden Retriever breeder Gayle pathological results. Thus, the three affected by ARCI. This was the first Watkins of Cold Spring, N.Y., who breeds studies led to the hypothesis of an evidence for the involvement of PNPLA1 under the Galyan prefix, concedes autosomal recessive transmission mode. in ichthyosis in dogs and humans.” that she has not been too concerned Random sampling of 500 Golden about ichthyosis since it appears so DNA Discovery Aids Understanding Retrievers in France further supports mildly in most Golden Retrievers. A The discovery of the causative muta - the autosomal recessive inheritance recent litter of seven affected puppies tion for Golden Retriever ichthy osis was and the mutation frequency as follows: made her think twice. made in 2010 by a group of French • Forty percent of dogs are carriers that “We had DNA testing performed geneticists led by Catherine André, inherit one copy of the mutated on the dam when she was pregnant,” Ph.D., head of the Canine Genet ics allele. Though they will not be affected, Watkins says. “Both she and the sire team at CNRS/University of Rennes. they transmit the mutated allele to tested positive. After this happened, The project was funded by CNRS and 50 percent of their offspring. I realized how upset prospective buyers the European Commission under the • Thirty percent are affected, inherit - can become about buying puppies with LUPA initiative that brought together ing two copies of the mutated allele a known flaw.” genomic experts at university and pri - and passing one mutated allele on Two of the puppies had moderate vate laboratories to study the genetics to 100 percent of their offspring. to severe flakes, or dandruff. Scales of dogs and learn more about human Many affected dogs do not show could be seen when the hairs on their diseases. A genomewide associ ation signs of disease, while others coat were parted. “When the puppies study of 40 affected dogs and 40 develop mild to moderate disease. were 19 weeks old, the signs had unrelated healthy ones allowed them • Thirty percent are normal. They disappeared, and eventually, there to identify a genomic region on canine inherit two copies of the normal were no clinical signs,” she says. chromosome 12. allele, and their offspring cannot Once the genetic test was offered, The researchers used candidate gene get the disease even if the other Williamson tested the sire and dam sequencing in 12 affected and 12 healthy parent is affected or a carrier. of a recent litter that produced a Goldens to identify the mutation in the André notes that thus far all affect - puppy with lightly, flaking dandruff. PNPLA1 (patatin-like phospholipase) ed Golden Retrievers have the same Both the sire and dam came back as protein. They found a homozygous mutation. She believes the disease is carriers. “The dam was bred three times insertion-deletion, or indel, mutation less prevalent in Golden Retrievers in before the DNA test was available,” in PNPLA1 that leads to a premature the U.S. compared to those in France she says. “What’s more, all three sires stop codon and then an altered protein and other European countries, where were carriers. I’ve always placed puppies in the affected dogs. the frequency of the mutation now with dandruff into pet homes, so while “We considered PNPLA1 to be a reaches about 50 percent. I don’t have any affected dogs at my promising candidate gene,” André says. She is hopeful that ongoing research kennel, I have plenty of carriers.” “This premature stop codon causes a will help identify and clarify the role Watkins worries that as DNA tests loss of 74 amino acids in the C-terminal of the PNPLA1 protein in normal and become available for milder conditions, region, affecting enzyme activity and affected dogs. “This is a big concern for breeders will be forced to avoid pro - potentially lipid droplet binding, of breeders,” André says. “Some dogs are ducing dogs with any diseases. “We the PNPLA1 protein.” so mildly affected they are considered are going to be pushed into making The research was confirmed by clinically unaffected, but if they are poor decisions for the breed, such as sequencing 320 Golden Retrievers, bred, they will spread the disease.” removing dogs from the gene pool for consisting of 120 affected and 200 minor conditions,” she says. “Fortunately, unaffected healthy dogs. All the affect - Realizing Breeding Implications ichthyosis does not affect a dog’s ability ed dogs were homo zygous for the A direct DNA test now is available to hunt, retrieve, swim or participate in mutation, about 30 percent, and the for determining if a Golden Retriever all kinds of activities. It is so important healthy ones were either homozygous carries the PNPLA1 mutation or is to not lose dogs with great qualities. for the normal allele, about 30 percent, affected by the scaling disorder, although A DNA test can be helpful as long as or heterozygous, about 40 percent, the DNA test cannot predict which we use smart breeding.” ■ which is consistent with an autosomal affected dogs will actually show clinical recessive mode of inheritance. signs. Margret Casal, Ph.D., D.V.M., 1 Grall A, et al. PNPLA1 mutations cause auto - The mutation was not found in associate professor of medical genetics somal recessive congenital ichthyosis in golden retriever dogs and humans. Nature Genetics . 180 healthy dogs representing the at the University of Pennsylvania School 2012(Jan15);44(2):140-147. other four retriever types: Labrador of Veterinary Medicine, cautions that 2 Mauldin EA, et al. The clinical and morphologic Retriever, Flat-Coated Retriever, Curly a positive ichthyosis test should not features of nonepidermolytic ichthyosis in the Coated Retriever, and Chesapeake Bay discourage breeders. “Breeders should golden retriever. Veterinary Pathology . 2008(Mar); Retriever. Nor was the mutation found not remove affected or carrier dogs 45(2):174-180. 3 Cadiergues MC, et al. Cornification defect in in 300 healthy dogs of 25 other breeds. from the gene pool,” she says. “This the golden retriever: clinical, histopathological, “The data support the causative would reduce genetic diversity and ultrastructural and genetic characterisation. nature of the mutation in Goldens, as create a super bottleneck.” Veterinary Dermatology . 2008:19;120-129. well as the specific founder effect in The best approach is to gradually 4 Guague re E, et al. Clinical, histopathological the breed,” André explains. “The indel reduce the mutation over six or seven and genètic data of ichthyosis in the golden retriever: a prospective study. Journal of Small introduced a frameshift and thus a generations, Casal advises. “You should Animal Practice . 2009:50(5);227-235. premature stop codon in the open consider the entire dog — all his or her reading frame of the gene, which led qualities and characteristics. An affected to a loss of 74 amino acids in the or carrier dog that has much to con - Purina appreciates the support of the highly conserved C-terminal region tribute should be bred, although you Golden Retriever Club of America of the PMPLA1 protein.” should avoid breeding two affected and particularly Rhonda Hovan, The geneticists applied information dogs. Instead, breed outstanding the GRCA research facilitator, in from the Golden genetic model to affected or carrier dogs to clear dogs. helping to identify topics for the human research. “We screened the This provides a choice of dogs to Purina Pro Club Golden Retriever PNPLA1 gene in humans affected with progressively decrease the frequency Update newsletter.

2 Purina ONE beyOnd Packaging Now Has Weight Circles

urina ONE beyOnd brand dog food, Whole Oat Meal Recipe, with real white Purina ONE beyOnd the super-premium natural food meat chicken as the No. 1 ingredient dog food comes in 3.5, Pplus vitamins and minerals and accented with carrots, tomatoes 15 and 26 pound pack - introduced in 2011, now includes and apples, and Lamb & Whole Barley age sizes. Purina ONE Weight Circles on the packaging. Recipe, with real lamb as the No. 1 beyOnd is sold at pet Starting in January 2013, Purina Pro ingredient and accented with blue - specialty, grocery and Club will no longer accept UPC codes berries, sweet potatoes and spinach. Both mass retail stores. For for Purina Point credit. have a 26 percent protein to 17 percent information, visit www.purinaone Purina ONE beyOnd has a value of fat ratio and are made without corn beyond.com . To talk to a pet adviser, 11 points per pound, the same as other or wheat, added fillers or artificial call 1-866-PURINA (1-866-787-4621) Purina ONE products. The Purina ONE preservatives. They offer complete from 7 a.m. to 7 p.m. Central time beyOnd portfolio includes: Chicken & and balanced nutrition for adult dogs. Monday through Friday. ■

Pro Club Dog Food Checks Change to Match New Packaging Sizes ne of the benefits of being a A limit of one check can be used per responsible for Weight Circles not in member of Purina Pro Club is bag. Members should allow three to its possession. Oreceiving dog food checks to five weeks for processing and delivery offset the costs of Purina brand dog of checks. Reminders from Pro Club food. The $7 dog food checks now can Pro Club members should be be used toward the purchase of any How to Reach Purina Pro Club aware of the following: 14-pound or larger bag of Purina • Purina Pro Club is not a program brand dog food. New packaging sizes To view your Purina Point balance, for institutional organizations, for Purina brand dog foods prompted Pro Club members should visit such as rescue groups, humane the change. www.purinaproclub.com or call societies or animal shelters. Purina Points accrue when members 1-877-PRO-CLUB (1-877-776-2582) • Any retail sale or purchase — submit Weight Circles, the colored between 7 a.m. and 5 p.m. Central including Internet transactions — circles on packages of Purina brand time Monday through Friday. of Purina and Purina Pro Club dog food. Weight Circle submissions materials is a violation of program are processed as Purina Points that Purina dog food checks expire in one terms and conditions. This includes, can be redeemed for items from the year and cannot be reissued. Members but is not limited to, the selling or Pro Club Member Rewards Brochure, should protect dog food checks like buying of Puppy Starter Kits and online at www.purinaproclub.com , or cash. Purina is not responsible for weight circles. for Purina dog food checks. Members replacement in the event of loss, • Pro Club is not responsible for fraud - should submit a minimum of 250 theft or destruction after issuance. ulent weight circles. Submitting pounds worth of Weight Circles in When submitting Weight Circles, fraudulent weight circles is a viola - one submission. Pro Club recommends that you mail tion of the Pro Club program terms Pro Club members may order any them by certified first-class mail or and conditions. quantity of checks in multiples of 10 other traceable delivery method. This • Purina reserves the right to terminate checks, using their Purina Points. A set helps to ensure proof of delivery in membership or remove or disqualify of 10 Purina brand dog food checks the event Pro Club does not receive earnings for any violation of account can be ordered for 7,000 Purina Points. your Weight Circles. Pro Club is not or program terms. ■

11th Annual National Dog Show Will Be Broadcast on Thanksgiving Day

he National Dog Show Pre- in. Co-hosts John O’Hurley, Dog Show. Judging Best in sented by Purina,” hosted by of “Seinfeld” and Show is Vicki L. Abbott of “T the Kennel Club of Phila delphia, “Dancing with the McKinney, Texas. will be broadcast on NBC from noon to Stars” fame, and David One of only five benched 2 p.m. Central time on Thanksgiving, Frei, of the Westminster dog shows held in this country, Nov. 22, following the “Macy’s Thanks - Kennel Club and an expert ana - the Kennel Club of Philadelphia and giving Day Parade.” lyst, have provided commentary its predecessor clubs have presented In its 11th year, The National Dog since the program began in 2002. dog shows since 1879. Today, the Show, which features Group and Best Held at the Greater Philadelphia show draws more than 4,000 entries in Show judging, has become an Expo Center at Oaks, The National Dog on Saturday and Sunday and more American Thanksgiving Day tradition Show is filmed during the Saturday, than 100,000 spectators. ■ with about 20 million people tuning Nov. 17 Kennel Club of Philadelphia

Purina-Sponsored Dog Shows* | November 2012 to January 2013

Event Date Location Bulldog Club of America National Specialty Nov. 19-24 Costa Mesa, CA American Brittany Club National Specialty Nov. 23-25 Fort Smith, AR Lone Star Winter Classic & Texas Kennel Club Dog Show Dec. 6-9 Dallas, TX Holiday Cluster & Malibu Kennel Club Dog Show Dec. 7-10 Costa Mesa, CA Cleveland Crown Classic Dog Shows Dec. 13-16 Cleveland, OH Kennel Club of Palm Springs Dog Show Jan. 3-6 Indio, CA Land O’Lakes Kennel Club Dog Show & Cluster Jan. 4-6 St. Paul, MN Florida Gulf Coast Cluster Jan. 10-11, Ocala, FL Jan. 13-15, Jan. 18-20 * This table lists some, but not all, upcoming Purina-sponsored dog shows.

3 Kennel Club Dog Show. A dynamic Westminster Best in Show Dogs Remembered show dog and the most successful for their Achievements, Ambassador Roles Colored Bull Terrier of all time, Rufus went on to became a therapy dog he recent passing of three history, J.R. won the Garden as a 3- and breed ambassador. Westminster Kennel Club Best year-old. Sommer continued to show Preceding the passing of these Tin Show winners has left a void the Bichon at select shows, and J.R. Westminster champions, “James” (CH in the hearts of their owners and dog captured his 101st show at the first Felicity’s Diamond Jim), the English enthusiasts around the world. “J.R.,” AKC National Championship. Best known Springer Spaniel who won the Garden “Stump” and “Rufus” will be remem - for his bouncy, energetic temperament, in 2007, died in May 2011 at 11 years bered for the records they set but J.R. also had a calm, empathetic side old. Owned by Teresa and Allen Patton also for how they endeared all who that came out when Scott took him to of Fairfax Station, Va., and handled by knew them. visit patients at children’s hospitals. Kellie Fitzgerald of Bear, Del., James Owner-handler Scott Sommer of Stump, the 2004 Sporting Group later visited children at cancer centers Houston lost his beloved house dogs, winner at the Garden, came out of and Ronald McDonald houses with J.R. and Stump, over six days in retirement to win Westminster, his Teresa Patton. He became the only September. J.R. (CH Special Times 51st Best in Show and a first for the canine celebrity to be recognized by Just Right), the Bichon Frise who won rare English breed. Though Stump was the Alzheimer’s Association as a the Garden in 2001, died Sept. 20 at entered for Westminster, it was not Champion for Alzheimer Awareness. 15 years of age. On Sept. 26, Stump until the Wednesday before that J.R., Stump, Rufus and James, (CH Clussexx Three D Grinchy Glee), the Sommer decided to bring him due to along with “Uno,” the Beagle and Sussex Spaniel who at age 10 became concerns that he was older and would “Sadie,” the Scottish Terrier, helped the oldest Westminster winner in 2009, have to fly in the cargo section because christen the Purina Event Center at passed away at 13 years of age. he was too large to meet the size Purina Farms in Gray Summit, Mo., in After retiring as show dogs, J.R. and requirement to fit under the seat. On August 2010. Along with their owners Stump had a daily ritual of taking a the return trip from New York, Stump and handlers, these Westminster Best 10-minute ride with Sommer to the flew first class with Sommer. in Show winners walked the red carpet boarding/show kennel where they lived Barbara and Tom Bishop of Holmdel, and were the first dogs to enter the when they were being campaigned. N.J., lost their beloved Rufus (CH Rocky facility. Their names are engraved on Stump would get out of the car, walk Top’s Sundance Kid), the 2006 West- brick pavers lining the Walk of into the kennel and take his place in minster winner, Aug. 9 at 12 years of Champions going into the building. the first run — the same that was his age. The first Colored Bull Terrier to Purina joins the owners of these when being shown. J.R. liked to sit on win the Garden, Rufus accumulated special dogs in commemorating their a grooming table, where he would 35 Bests in Show, including “The lives. Their accomplishments and their bark hello to all who entered. National Dog Show Presented by shining personalities will be remembered The top-winning Bichon in breed Purina” and the Morris and Essex for many years to come. ■

Purina-Sponsored Sporting Events* | November to December 2012

Event Date Location NGSPA Pheasant Championship Nov. 1 to Conclusion Queenstown, MD Kentucky Open Shooting Dog Championship Nov. 6 to Conclusion Richmond, KY Retriever National Open Championship Nov. 10-17 Montgomery, TX English Springer Spaniel National Amateur Championship Nov. 12 Ogden, UT Southern Championship Nov. 12 to Conclusion Holly Springs, MS American Brittany Club National Championship Nov. 23-25 Booneville, AR English Springer Spaniel National Open Championship Nov. 24-28 Pinckneyville, IL

UKC Battle of the Breeds Dec. 7-8 Ada, OK

* This table lists some, but not all, upcoming sporting events sponsored by Purina.

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