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Acta Vet Scand. 2015 May 23;57:26. doi: 10.1186/s13028-015-0115-1.

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.

Author information

1
Department of Clinical Sciences, Swedish University of Agricultural Sciences, SE-750 07, Uppsala, Sweden. cecilia.rohdin@uds.slu.se.
2
Anicura, Albano Small Animal Hospital, Rinkebyvägen 21, SE-182 36, Danderyd, Sweden. cecilia.rohdin@uds.slu.se.
3
Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA. dhg27f@mail.missouri.edu.
4
School of Veterinary Science, The University of Queensland, Gatton, QLD, 4343, Australia. c.oleary@uq.edu.au.
5
Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, MO, USA. obriend@missouri.edu.
6
Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, MO, USA. coatesj@missouri.edu.
7
Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA. johnsongs@missouri.edu.
8
Department of Companion Animal Clinical Sciences, Norwegian University of Life Sciences, P.O. Box 8146 Dep., NO-0033, Oslo, Norway. karinhultin.jaderlund@nmbu.no.

Abstract

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.

PMID:
25998802
PMCID:
PMC4445810
DOI:
10.1186/s13028-015-0115-1
[Indexed for MEDLINE]
Free PMC Article

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