title: Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats.
abstract: Mucopolysaccharidosis type VI (MPS VI), a lysosomal storage disease, is one of the more prevalent inherited diseases in cats and is commonly found in cats with Siamese ancestry. The prevalence of 2 known MPS VI mutations in cats was investigated in 101 clinically normal Siamese cats, in 2 cats with clinical signs of MPS VI, and in 202 cats from 4 research colonies. The mutation L476P which causes a severe clinical phenotype, was present on both alleles in the known MPS VI cats from Italy and North America and was present in all research colonies that originated from North America. However, LA76P was not detected in the Siamese population screened. In contrast, the mutation D520N, which causes a mild clinical phenotype, was identified in 23 of 202 (11.4%) alleles tested in Siamese cats from 3 continents, 2 of which were homozygous for D520N. Thus, the D520N mutation was widespread, and it is likely that cats inheriting both mutations (LA76P/D520N compound heterozygotes) would be in the general Siamese population, particularly in North America. Practitioners should note the high incidence of degenerative joint disease in these animals.
authors.affiliation: Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, Adelaide, South Australia. allison.crawley@adelaide.edu.au
authors.forename: A C
authors.initials: AC
authors.lastname: Crawley
authors.forename: F H
authors.initials: FH
authors.lastname: Muntz
authors.forename: M E
authors.initials: ME
authors.lastname: Haskins
authors.forename: B R
authors.initials: BR
authors.lastname: Jones
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
mesh_terms: D000818:Animals; D001118:Argentina / Q000453:epidemiology; D001315:Australia / Q000453:epidemiology; D001947:Breeding; D002371:Cat Diseases / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*; D002415:Cats; D004739:England / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D007494:Ireland / Q000453:epidemiology; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D014481:United States / Q000453:epidemiology