Journal Article

A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

Coates, Joan R., O’Leary, Caroline A., Jäderlund, Karin Hultin, Gilliam, Douglas, O’Brien, Dennis P., Rohdin, Cecilia, Johnson, Gary S.

2015

Overview

Background Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier. However, segregation analyses showed differing inheritance modes in these breeds. Recently, molecular genetic studies on the Russell group of terriers found independent mutations in KCNJ10 and CAPN1 , each associated with a specific clinical subtype of inherited ataxia. The aim of this study was to clarify whether or not Smooth-Haired Fox Terriers with hereditary ataxia and dogs of other related breeds harbor either of the same mutations. A sub goal was to update the results of KCNJ10 genotyping in Russell group terriers. Findings Three Smooth-Haired Fox Terriers with hereditary ataxia and two Toy Fox Terriers with a similar phenotype were all homozygous for the KCNJ10 mutation. The same mutation was also found in a heterozygous state in clinically unaffected Tenterfield Terriers (n = 5) and, in agreement with previous studies, in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers. Conclusions A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers segregates in at least three more breeds descended from British hunting terriers. Ataxic members of two of these breeds, the Smooth-Haired Fox Terrier and the Toy Fox Terrier, were homozygous for the mutation, strengthening the likelihood that this genetic defect is indeed the causative mutation for the disease known as “hereditary ataxia” in Fox Terriers and “spinocerebellar ataxia with myokymia, seizures or both” in the Russell group of terriers.

• Publisher: BioMed Central,BioMed Central Ltd,Nature Publishing Group
• Subject: Analysis / Animal Anatomy / Animals / Annan veterinärmedicin / Ataxia / ataxia (disorder) / Brief Communication / Dog Diseases - genetics / Dogs / Genetic aspects / genetic disorders / Genetic research / Genotype / genotyping / heterozygosity / Histology / homozygosity / inheritance (genetics) / Medicine / Medicine & Public Health / Morphology / Mutation / Other Veterinary Science / phenotype / Potassium Channels, Inwardly Rectifying - genetics / Potassium Channels, Inwardly Rectifying - metabolism / seizures / Species Specificity / Spinocerebellar Degenerations - genetics / Spinocerebellar Degenerations - veterinary / terriers / Veterinary Medicine/Veterinary Science