Calcium oxalate urolithiasis in juvenile dogs.

BACKGROUND: The features of juvenile-onset calcium oxalate urolithiasis in dogs have not been previously reported. METHODS: Calcium oxalate urolith submissions to the Minnesota Urolith Center between 2012 and 2016 were analyzed to identify those originating from juvenile (≤2 years, n = 510) or mature (7-9 years, n = 39,093) dogs. Breed, sex, urolith salt type and urolith location were compared between groups. Breeds represented in both groups were also compared with respect to sex, urolith salt type and urolith location. RESULTS: French (odds ratios [OR] = 14.7, p < 0.001) and English (OR = 14.3, p < 0.001) Bulldogs were overrepresented in juvenile submissions. All juvenile French and English Bulldogs were male. Across all breeds, juvenile dogs were more likely to be male (89%, p < 0.001) than mature dogs (79%). Juvenile dogs were also more likely to form dihydrate stones compared to mature dogs (33% versus 14%, respectively; p < 0.001). Breed differences were discovered in sex, urolith salt type and stone location. CONCLUSIONS: French and English Bulldogs comprise a greater proportion of juvenile calcium oxalate urolith submissions than expected based on their rarity in mature submissions. Inherited risk factors, particularly X chromosome variants, should be investigated due to the strong breed and sex predispositions identified.

A Third MLPH Variant Causing Coat Color Dilution in Dogs.

Altered melanosome transport in melanocytes, resulting from variants in the melanophilin (MLPH) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the MLPH gene corresponds to the D locus and two variants, c.-22G > A (d1) and c.705G > C (d2), leading to the dilution of coat color, as described. Here, we describe the independent investigations of dogs whose coat color dilution could not be explained by known variants, and who report a third MLPH variant, (c.667_668insC) (d3), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d3 allele is found at low frequency in multiple dog breeds, as well as in wolves, wolf-dog hybrids, and indigenous dogs. Canids in which the d3 allele contributed to the grey (dilute) phenotype were d1/d3 compound heterozygotes or d3 homozygotes, and all non-dilute related dogs had one or two D alleles, consistent with a recessive inheritance. Similar to other loci responsible for coat colors in dogs, this, alongside likely additional allelic heterogeneity at the D locus, or other loci, must be considered when performing and interpreting genetic testing.

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.

The collagen VI-related muscular dystrophies in people include a broad spectrum of diseases ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Clinical features are attributable to both muscle and connective tissue and include progressive muscle weakness and respiratory failure, hyperlaxity of distal joints, and progressive contracture of large joints. Here we describe two different COL6A3 pathogenic variants in Labrador Retriever dogs that result in autosomal recessive or autosomal dominant congenital myopathies with hyperlaxity of distal joints and joint contracture, similar to the condition in people.