Evaluation of canine heat shock transcription factor 4 (HSF4) as a candidate gene for primary cataracts in the Dachshund and the Entlebucher Mountain dog

OBJECTIVE: Testing of the cataract-causing insertion/deletion mutation in the canine HSF4 gene for its linkage and association with primary cataracts (CAT) in Dachshunds and Entlebucher Mountain dogs. MATERIALS: Exon 9 with flanking intronic regions of the canine HSF4 gene was sequenced in 24 Dachshunds and 20 Entlebucher Mountain dogs. The HSF4 cDNA sequence of lens tissue was analyzed in a CAT-unaffected mixed-breed dog and in three CAT-affected dogs of different breeds, including a Wire-haired Dachshund, a Dachshund-mix and a German Shepherd dog. RESULTS: In all dogs investigated here, the previously reported CAT-causing mutation did not exist. We found a single nucleotide polymorphism (SNP) in intron 9, which was neither associated nor linked with the CAT phenotype in the two dog breeds. CONCLUSION: The CAT phenotype in the two dog breeds investigated here was not caused by the same mutation found to be associated with early-onset CAT in the Staffordshire Bull Terrier and Boston Terrier. The intronic SNP may be useful to test HSF4 for linkage with CAT in further dog breeds.     

Breed distribution of the ABCB1-1Delta (multidrug sensitivity) polymorphism among dogs undergoing ABCB1 genotyping

OBJECTIVE: To evaluate the breed distribution of the ABCB1-1Delta polymorphism in a large number of dogs in North America, including dogs of several herding breeds in which this polymorphism has been detected and other breeds in which this polymorphism has not yet been identified. DESIGN: Cross-sectional study. ANIMALS: 5,368 dogs from which buccal swab samples were collected for purposes of ABCB1 genotyping. PROCEDURES: From May 1, 2004, to September 30, 2007, DNA specimens derived from buccal swab samples collected from 5,368 dogs underwent ABCB1 genotyping. These data were reviewed, and results for each dog were recorded in a spreadsheet, along with the dog's breed. The genotypes for each breed were tallied by use of a sorting function. RESULTS: The ABCB1-1Delta allele was identified in 9 breeds of dogs and in many mixed-breed dogs. Breeds that had the ABCB1-1Delta allele included Collie, Longhaired Whippet, Australian Shepherd (standard and miniature), Shetland Sheepdog, Old English Sheepdog, Border Collie, Silken Windhound, and German Shepherd Dog (a breed in which this mutation had not been detected previously). CONCLUSIONS AND CLINICAL RELEVANCE: The ABCB1-1Delta polymorphism is associated with increased susceptibility to many adverse drug reactions and with suppression of the hypothalamic-pituitary-adrenal axis and is present in many herding breeds of dog. Veterinarians should be familiar with the breeds that have the ABCB1-1Delta polymorphism to make appropriate pharmacologic choices for these patients.     

Qualitative and quantitative analysis of uroliths in dogs: definitive determination of chemical type

Effective treatment and prevention of urolithiasis depends on accurate determination of the chemical nature of the uroliths. A widely used qualitative chemical procedure was compared with quantitative crystallographic analysis of 272 canine uroliths. Agreement between the 2 methods was 78%. Qualitative analysis failed to detect 62% of calcium-containing uroliths and 83% of carbonate apatite uroliths. Qualitative analysis gave false-positive results for urates in 55% of cystine uroliths. Mixed uroliths comprising 6% of the total could not be classified without quantitative analysis. Silicate, cystine, and urate uroliths generally were of pure composition. Crystallographic analysis indicated the following distribution of major types: struvite, 69%; calcium oxalate, 10%; urate, 7%; silicate, 3.5%; cystine, 3.2%; calcium phosphate, 1%; and mixed, 6%. Among dogs with struvite uroliths, 66% had positive results of bacterial culturing from the urinary bladder. Six breeds (Miniature Schnauzer, Welsh Corgi, Lhasa Apso, Yorkshire Terrier, Pekingese, and Pug) had a significantly higher risk for urolithiasis, compared with other breeds. The German Shepherd Dog had a significantly lowered risk, compared with other breeds. Two breeds had significant relationship to a specific type of urolith: Miniature Schnauzer for oxalate, and Dalmatian for urate (P less than 0.001). It was concluded that quantitative analysis, using crystallography, was superior for the detection of calcium oxalate, carbonate apatite, cystine, urate, and mixed uroliths.     

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.     

Primary hypoparathyroidism in dogs: a retrospective study of 17 cases

OBJECTIVE: To evaluate the clinico-pathological findings, response to treatment and prevalence of complications in dogs with primary hypoparathyroidism. DESIGN: Retrospective study of 17 dogs presenting to the University of Melbourne Veterinary Clinical Centre and Murdoch University Veterinary Hospital over a 15 year period (1990 to 2004). Case records were evaluated for signalment, body weight, diet type, historical and clinical findings, serum total calcium, phosphate, albumin and parathyroid hormone concentrations, urinary fractional excretion ratios of calcium and phosphate, electrocardiogram (ECG) results, treatments administered, outcome and period of follow-up. RESULTS: The most common breeds identified were St Bernard (three dogs), Chihuahua (two dogs), German Shepherd (two dogs) and Jack Russell Terrier (two dogs). Three dogs were cross bred. Seizures, muscle tremors and fasciculations, stiff gait, tetany, muscle cramping, behavioural change and hyperventilation were the most common clinical signs. Vomiting, inappetence, diarrhoea, abdominal pain, hyperthermia, facial pruritus, ataxia, weakness, cataracts, and circling also occurred with less frequency. The mean duration of observed clinical signs preceding diagnosis was 33 days (median 13 days, range 1 to 173 days). All dogs had marked hypocalcaemia with normal or mildly increased serum albumin concentrations. Mean phosphate concentrations were significantly higher in inappetent dogs (P = 0.049). Mean serum calcium concentrations were significantly lower in dogs with cataracts compared to those without (P = 0.046). There were no other significant relationships between serum calcium or phosphate concentrations and the clinical presentation or outcome. No significant correlations were identified between the presence of a particular clinical sign and the duration of clinical signs. ECGs were obtained in four dogs and all exhibited QT interval prolongation due to a ST-segment prolongation. Sixteen of 17 dogs were treated successfully for hypocalcaemia and discharged from hospital. Acute management included parenteral calcium gluconate (10 dogs) and intravenous anticonvulsants (five dogs). Chronic therapy included oral vitamin D analogues and calcium supplementation. Treatment complications occurred in two dogs and included acute renal failure (one dog) and iatrogenic tissue necrosis following subcutaneous calcium administration (one dog). The mean follow-up period was 14.5 months (median 13 months, range 0 to 39 months). Twelve dogs were alive at the last follow up and two dogs were euthanased for unrelated reasons. The type of vitamin D analogue used was not associated with outcome. CONCLUSION: Primary hypoparathyroidism was an uncommon diagnosis in dogs. Saint Bernards, cross bred dogs, German Shepherd dogs and Terrier breeds were most commonly affected. Neurological signs were the most common presenting clinical signs, although alimentary signs may have been more common than previously reported. Dogs with primary hypoparathyroidism appeared to have a good prognosis following initiation of calcium supplementation and vitamin D therapy. Complications of treatment were uncommon and could be minimised with regular monitoring.     

Frequency of the nt230 (del4) MDR1 mutation in Collies and related dog breeds in Germany

MDR1 (ABCB1) P-glycoprotein exerts a protective function in the blood–brain barrier thereby limiting the entry of many drugs and other xenobiotics to the central nervous system. A nonsense mutation has been described for Collies and related dog breeds which abolishes this function and is associated with increased susceptibility to neurotoxic side effects of several drugs including ivermectin, moxidectin and loperamide. In order to evaluate the occurrence and frequency of this nt230 (del4) MDR1 mutation in Germany, we screened 1500 dogs. Frequency of the homozygous mutated genotype was highest for Collies (33.0%), followed by Australian Shepherd (6.9%) and Shetland Sheepdog (5.7%). Thirty-seven percent of the Wäller dogs and 12.5% of the Old English Sheepdogs were heterozygous for the mutant MDR1 (−) allele. Considering the predominant role of MDR1 P-glycoprotein in drug disposition and in particular for blood–brain barrier protection, MDR1 genotype-based breeding programs are recommended for improving the safety of drug therapy in these canine breeds.     

Evaluation of haplotypes associated with copper toxicosis in Bedlington Terriers in Australia

OBJECTIVE: To evaluate the haplotype distribution associated with the copper toxicosis gene and the segregation of the mutated allele in a Bedlington Terrier population in Australia. ANIMALS: 131 Bedlington Terriers. PROCEDURE: Samples of DNA and RNA were obtained from each dog. Genetic status of each dog was evaluated by use of the DNA markers C04107; single nucleotide polymorphism (SNP), which was adjacent to exon 2 of Murr1; and a deletion marker for exon 2. A subgroup of the study population was evaluated by use of biochemical and histologic techniques to elucidate the correlation between genotype and phenotype. RESULTS: We identified a recombination between the C04107 marker and Murr1 and a variation in a nucleotide in the splice site of exon 2 in our Bedlington Terrier cohort. Furthermore, we identified a novel haplotype associated with copper toxicosis in this cohort. CONCLUSIONS AND CLINICAL RELEVANCE: Our findings indicate that the deletion of exon 2 was not the sole cause of copper toxicosis, although only exon 2 deletion of Murr1 has been responsible for copper toxicosis in Bedlington Terriers. Although we failed to find a novel mutation in our cohort, we identified an affected dog family with an intact exon 2. Furthermore, we found that an SNP in the 5' splicing site of exon 2 may or may not be associated with a novel mutation of the Murr1 gene or other genes. Loss of linkage between the C04107 marker and the Murr1 gene was also identified in a certain family of dogs.     

ADAMTS17 mutation associated with primary lens luxation is widespread among breeds

Primary lens luxation (PLL) is a well-recognized, painful and potentially blinding inherited ocular condition in dogs. We screened PLL-affected dogs of 30 different breeds, to identify those which carried a previously described c.1473+1 G>A mutation in ADAMTS17 that is associated with PLL in Miniature Bull terriers, Lancashire Heelers, and Jack Russell terriers. This ADAMTS17 mutation was identified in PLL-affected dogs from 14 additional breeds. PLL-affected dogs from some breeds (most notably the Shar pei and the Brittany spaniel) did not carry the G1473+1A ADAMTS17 mutation, indicating they must suffer from a genetically distinct form of the condition. We also estimated the frequency of this ADAMTS17 mutation in some of the breeds. Our findings indicate the mutation segregates in a large number of different breeds of dog, many of which are terriers or breeds with terrier co-ancestry, but some of which have more diverse origins. Our results also indicate that the mutation is present at high frequency within most of the breeds in which it segregates. In the miniature bull terrier breed estimates of mutation frequency ranged from 0.27 to 0.39, corresponding to 7.3-15.2% PLL-affected dogs in this breed. We also identified an increased risk of PLL associated with heterozygosity at ADAMTS17, suggesting that carriers carry a low risk of developing PLL.     

Analysis of the canine mdr1-1Delta mutation in the dog breed Elo

A deletion mutation in the canine multidrug resistance gene, MDR1, is associated with drug sensitivity. This was shown for several purebred dog breeds from the Collie lineage such as the Collie (rough-coated and smooth-coated), the Australian Shepherd and the Old English sheepdog. To determine whether the mdr1-1Delta mutation could be found in the newly bred German dog breed Elo which is based amongst other breeds on Old English sheepdogs, 177 blood samples representative for the Elo breed were collected. After DNA extraction, a polymerase chain reaction-based method with subsequent polyacrylamide gel electrophoresis was used for detection of the mdr1-1Delta mutation. The mdr1-1Delta allele was not observed in the Elos investigated. The probability that the mdr1-1Delta allele originated in the Old English sheepdog breed is segregating in the Elo population was estimated at 3.68 x 10(-17).     

Prevalence of primary breed-related cataracts in the dog in North America

The objective of the study was to determine the prevalence of cataracts in dogs presented to veterinary medical teaching hospitals in North America between 1964 and 2003. A retrospective study of all dogs presented with cataracts to veterinary medical teaching hospitals in North America between 1964 and 2003 was conducted to determine cataract prevalence. The different decades, breeds, gender, and age at time of presentation with cataract were compared. The prevalence of dogs presented with cataract varied by decade and ranged from 0.95% (1964-73), 1.88% (1974-83), 2.42% (1994-2003), to 3.5% (1984-93). The total number of dogs presented with cataracts over the 40-year period was 39,229. From 1964 to 2003 the prevalence of cataract formation in this patient population increased by about 255%. Fifty-nine breeds of dogs were affected with cataracts above the baseline prevalence of 1.61% seen in mixed-breed/hybrid dogs. The breeds with the highest cataract prevalence included: Smooth Fox Terrier (11.70%), Havanese (11.57%), Bichon Frise (11.45%), Boston Terrier (11.11%), Miniature Poodle (10.79%), Silky Terrier (10.29%) and Toy Poodle (10.21%). The breeds with the largest number of cataractous dogs during the entire four decades were the Boston Terrier (11.11%), Miniature Poodle (10.79%), American Cocker Spaniel (8.77%), Standard Poodle (7.00%), and Miniature Schnauzer (4.98%). Gender ratios of cataractous dogs seemed to affect limited breeds. Age of presentation with cataract diagnosis varied among several breeds. In the mixed-breed/hybrid baseline population, cataract formation appeared to be age related with a higher frequency of cataract formation in dogs after 4-7 years. Cataract formation is one of the most prevalent eye diseases in the dog population, and in about 60 breeds of dogs the prevalence of cataract exceeds that of the baseline mixed-breed/hybrid group. The prevalence of cataract is also influenced by age in most purebred dogs and affects 16.80% of the 7-15+-year-old mixed-breed/hybrid dog population. Total and age-related cataract prevalence in dogs seems very similar to that in man.     

Frequency of the mutant MDR1 allele associated with multidrug sensitivity in a sample of herding breed dogs living in Australia

A study was performed to determine the frequency of the mutant MDR1 allele associated with ivermectin sensitivity in a sample of Collies and other herding breeds living in Australia. Buccal swab samples were collected from 33 Collies, 17 Australian Shepherds, 7 Border Collies and 7 Shelties for determination of MDR1 genotype. DNA was extracted and the polymerase chain reaction was performed to amplify a 148 base pair (wildtype MDR1 genotype or 144 base pair (mutant MDR1 genotype) amplicon containing the MDR1 mutation. Sequence analysis was performed to determine the genotype of each dog. Adequate quantities of DNA for unequivocal genotyping were obtained from 61 of 64 samples. The previously described MDR1 mutation was identified in Collies, Australian Shepherds and Shelties living in Australia, but not in Border Collies (although sample numbers were low). Twelve percent (4/33) of the Collies studied were homozygous for the normal allele (normal), 64% (21/33) were heterozygous (carrier) and 24% (8/33) were homozygous for the mutant allele (affected). Results of this study indicate that a high percentage of herding breeds presenting to veterinarians in Australia harbor the MDR1 mutation, thus impacting some therapeutic decisions.     

Population structure and genetic differentiation of livestock guard dog breeds from the Western Balkans

Livestock guard dog (LGD) breeds from the Western Balkans are a good example of how complex genetic diversity pattern observed in dog breeds has been shaped by transition in dog breeding practices. Despite their common geographical origin and relatively recent formal recognition as separate breeds, the Karst Shepherd, Sarplaninac and Tornjak show distinct population dynamics, assessed by pedigree, microsatellite and mtDNA data. We genotyped 493 dogs belonging to five dog breeds using a set of 18 microsatellite markers and sequenced mtDNA from 94 dogs from these breeds. Different demographic histories of the Karst Shepherd and Tornjak breeds are reflected in the pedigree data with the former breed having more unbalanced contributions of major ancestors and a realized effective population size of less than 20 animals. The highest allelic richness was found in Sarplaninac (5.94), followed by Tornjak (5.72), whereas Karst Shepherd dogs exhibited the lowest allelic richness (3.33). Similarly, the highest mtDNA haplotype diversity was found in Sarplaninac, followed by Tornjak and Karst Shepherd, where only one haplotype was found. Based on F_ST differentiation values and high percentages of animals correctly assigned, all breeds can be considered genetically distinct. However, using microsatellite data, common ancestry between the Karst Shepherd and Sarplaninac could not be reconstructed, despite pedigree and mtDNA evidence of their historical admixture. Using neighbour‐joining, STRUCTURE or DAPC methods, Sarplaninac and Caucasian Shepherd breeds could not be separated and additionally showed close proximity in the NeighborNet tree. STRUCTURE analysis of the Tornjak breed demonstrated substructuring, which needs further investigation. Altogether, results of this study show that the official separation of these dog breeds strongly affected the resolution of genetic differentiation and thus suggest that the relationships between breeds are not only determined by breed relatedness, but in small populations even more importantly by stochastic effects.     

Prevalence of Deafness in Dogs Heterozygous or Homozygous for the Merle Allele

Background: Deafness in dogs is frequently associated with the pigment genes piebald and merle. Little is known about the prevalence of deafness in dogs carrying the merle allele.
Objective: To determine the prevalence of deafness in dogs heterozygous and homozygous for the merle allele of the mouse Silver pigment locus homolog (SILV) gene.
Animals: One hundred and fifty-three privately owned merle dogs of different breeds and both sexes.
Methods: Hearing was tested by brainstem auditory-evoked response and classified as bilaterally hearing, unilaterally deaf, or bilaterally deaf. DNA from buccal cells was genotyped as either heterozygous or homozygous for the merle allele. Deafness association tests among merle genotype, eye color, and sex were performed by the χ² test.
Results: Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles ( Mm ), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles ( MM ), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex.
Conclusions: Deafness prevalence in merle dogs was greater than that in some dog breeds homozygous for the piebald gene, such as the English Cocker Spaniel, but comparable to, or lower than, that in the Dalmatian and white Bull Terrier. Dogs homozygous for the merle allele were significantly more likely to be deaf than heterozygotes.     

Dangerous dogs in Berlin in comparison to the dog population--ways to reduce the dangerousness of dogs

The law for handling and control of dogs in Berlin of September 29, 2004 was enacted to prevent the risks for humans and animals when ever they have contact with dogs. "Dangerous dogs" are defined by this law. There are 10 breeds of dogs supposed to be dangerous due to specific characteristics of their breed ("listed breeds"). The dangerousness of a dog's breed is not identical with the dangerousness of an individual dog. The subject of this study is to examine the potential dangerousness of dog breeds and not the individual dangerousness of a dog. This study refers to statistics of incidents between dogs and humans in Berlin for the years 1998 to 2004. The population density of a breed is based on the dogs assessed for tax purposes in Berlin of January 1, 2005 and on the dog registrations maintained at veterinary hospitals. The fourfold-table-test was used to compare the quantity of the recorded incidents of two statistically independent dog breeds. Of the total population of 107,804 tax assessed dogs in Berlin in 2004, 0.9% was documented as dogs involved in incidents with humans. The incidents per year decreased in the "listed breeds"about 68% and in the "unlisted breeds" about 41% during the last 7 years in Berlin. Therefore, the probability (the odds ratio) of a breed to be conspicuous was analysed.The values for the calculation of this probability were the number of dogs of a breed having been involved in incidents compared to the population of this breed based on tax records.The comparison of the probability of a breed with another to be conspicuous was used to compile a cluster of breeds which had the same probability to be conspicuous in 2004. A cluster was assessed for dogs of the following breeds: Sheep dogs, Rottweiler, Doberman, Pitbull Terrier and American Staffordshire Terrier. A listing of breeds is not the right way to reduce the potential dangerousness of a dog, especially in the private domain of their owners. Most incidents with dogs occur in the private domain which normally is not recorded in the statistics of incidents. Therefore, it is more effective to support activities which include the training of abilities of the dog owners.Training by experts can enable dog owners to avoid conflict situations with their dog, or in case of conflict, to take appropriate actions.     

Responses of atopic dogs to regional allergens: 268 cases (1981-1984)

Responses of atopic dogs to intradermal challenge with 60 allergens were determined and compared for 4 regions of the United States Twenty-seven allergens incited significantly higher responses in atopic dogs residing in northern Florida, when compared with dogs in Illinois; responses to 28 allergens were more significant in dogs residing in southern Florida vs Illinois. Only 1 allergen caused more responses in atopic dogs in northern Florida, compared with dogs in southern Florida. Females had a higher tendency to develop clinical signs of atopy. Dogs of the West Highland White Terrier, Cairn Terrier, English Setter, Irish Setter, Dalmatian, Lhasa Apso, Golden Retriever, and Labrador Retriever breeds were found to be predisposed to develop clinical signs of atopy. Dogs of the Poodle, Pug, German Shepherd Dog, Cocker Spaniel, Bulldog, Schnauzer, Doberman Pinscher breeds, of mixed breeding, and of terrier breeds other than the 2 aforementioned were not found to have a higher prevalence, when compared with the general hospital population. Of the atopic dogs evaluated in Florida, 79% had a significant response to flea antigen, compared with only 9% of atopic dogs evaluated in Illinois.     

Haplotype analysis of the MDR1 flanking region in the dog breed Elo

A deletion mutation in the canine multidrug resistance (MDR1) gene provokes drug sensitivity in several dog breeds from the Collie lineage. A haplotype of four microsatellites containing this mdr1-1Delta mutation was conserved among affected breeds. In this study, we analysed the haplotypes of the MDR1 flanking region of 177 dogs of the breed Elo which is composed of several dog breeds including the Old English sheepdog from the Collie lineage. We detected a haplotype in the Elo breed which had previously been associated with the mutant mdr1-1Delta allele in Old English sheepdogs. Using a regression analysis for the probability of the haplotype on the proportion of genes of the founder breeds, we could exclude the Old English sheepdog as origin of this haplotype for the Elo breed. The MDR1 flanking region could be traced back to the Japanese Spitz as one of the founder dog breeds of the Elo and thus, the introgression of the mdr1-1Delta mutation into the dog breed Elo through the Collie lineage is very unlikely.     

Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency.

OBJECTIVE: To define the disease-causing mutation in West Highland White Terriers (WHWT) with erythrocyte pyruvate kinase (R-PK) deficiency and to design a genetic test capable of recognizing affected (homozygous) and carrier (heterozygous) dogs. ANIMALS: 3 anemic WHWT littermates and 1 unaffected littermate; 16 dogs from the same kennel, including 4 unrelated, phenotypically normal dogs (control dogs), and 12 for which PK activity was not known; 2 PK-deficient Basenjis; 2 PK-deficient Beagles; 4 unaffected English Springer Spaniels; and 1 mixed-breed dog. PROCEDURES: cDNA was cloned and sequenced, and cDNA sequences were compared with the published sequence for canine R-PK cDNA to identify the putative disease-causing mutation. Genomic DNA spanning the affected region was cloned and sequenced to verify the mutation. Subsequently, polymerase chain reaction primers were designed to amplify the section of the gene containing the mutation from DNA in blood or buccal swab samples. Gel electrophoresis allowed assignment of genotypes on the basis of allele separation. RESULTS: 4 single base polymorphisms attributable to sequencing errors in the published sequence were identified, along with a 6 base pair (bp) insertion in exon 10 that was recognized as a putative disease-causing mutation. An identical insertion was found in genomic DNA. Amplification of genomic DNA yielded a 117 bp product for genotypically normal dogs and a 123 bp product for WHWT homozygous for PK deficiency. Carriers had 1 copy of each allele and variable heteroduplex structures. CONCLUSIONS AND CLINICAL RELEVANCE: A 6 bp insertion in the C domain of R-PK was identified in WHWT with PK deficiency. Affected and carrier dogs could be distinguished with a genetic test.     

Prevalence of the breed-related glaucomas in pure-bred dogs in North America

Objective To determine the prevalence of the breed‐related glaucomas in pure‐bred dogs presented to the veterinary medical teaching hospitals in North America that participate in the Veterinary Medical Data Base (VMDB). Materials and methods In this retrospective study, age of first diagnosis, breed, and gender data for all breeds of dogs were collected from the VMDB with the clinical diagnosis of primary glaucoma (glaucoma‐NOS) at 5–10 year intervals from 1964 to 2002. The prevalence for each breed (affected dogs compared to all dogs of each breed), any changes over the 38 years, and any gender differences for these glaucomas were determined. Results The prevalence of the primary breed‐related glaucomas has gradually increased from 0.29% (1964–1973); 0.46% (1974–1983); 0.76% (1984–1993); to 0.89% (1994–2002). Breeds that consistently featured among the highest 10 for glaucoma prevalence from four different periods (1964 to 2002) included American Cocker Spaniel, Basset Hound, Wire Fox Terrier, and Boston Terrier. During the last observation period (1994–2002), 22 different breeds had 1% or higher prevalence of the glaucomas. The highest prevalence of glaucomas in 1994–2002 by breed included: American Cocker Spaniel (5.52%); Basset Hound (5.44%); Chow Chow (4.70%); Shar‐Pei (4.40%); Boston Terrier (2.88%); Wire Fox Terrier (2.28%); Norwegian ElkHound (1.98%); Siberian Husky (1.88%); Cairn Terrier (1.82%); and Miniature Poodle (1.68%). A predominance of females with glaucoma occurred in the American Cocker Spaniel, Basset Hound, Cairn Terrier, Chow Chow, English Cocker Spaniel, Samoyed, and perhaps the Siberian Husky, and a predominance of males in the Australian Cattle dog and St Bernard. Age affected the time for first presentation of the glaucomas in the pure‐bred dog. In the majority of breeds the glaucomas were presented for initial diagnosis in dogs between 4 and 10 years of age. Conclusion Breed‐related glaucomas in pure‐bred dogs are frequently presented to the veterinary medical teaching hospitals in North America. The prevalence of the breed‐related glaucomas in the dog appears similar to humans, and in some breeds exceeds that in humans. In many breeds the high prevalence of the glaucomas suggests a genetic basis.     

Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds

The impact of the mutation causing dynamin 1 (DNM1)-associated exercise-induced collapse (d-EIC) was determined in a retrospective genetic survey. The frequency of DNM1 mutant allele carriers in Labrador retrievers from conformation show, field trial/hunt test, pet or service lines ranged from 17.9% to 38.0% and the frequency of homozygous mutant (EE genotype) individuals ranged from 1.8% to 13.6%; 83.6% of these EE Labradors were reported to have collapsed by 4 years of age. DNM1 mutation carriers and EE dogs with a collapse phenotype were also detected in Chesapeake Bay retrievers, Curly-coated retrievers, Boykin spaniels, Pembroke Welsh corgis and mixed breed dogs thought to be Labrador retriever crosses. The DNM1 mutation was not identified in Golden, Flat-coated, or Nova Scotia duck tolling retrievers, or 15 other non-retrieving breeds. Veterinarians and breeders should be aware that the DNM1 EE genotype is not completely penetrant and that d-EIC is a widespread health concern in several very popular breeds, as well as breeds whose genetic similarity to retrievers is not obvious.