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Ahonen S, Seath I, Rusbridge C, et al. Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom. Canine Genet Epidemiol. 2018;5:2doi: 10.1186/s40575-018-0058-8.
Ahonen, S., Seath, I., Rusbridge, C., Holt, S., Key, G., Wang, T., Wang, P., & Minassian, B. A. (2018). Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom. Canine genetics and epidemiology, 52. https://doi.org/10.1186/s40575-018-0058-8
Ahonen, Saija, et al. "Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom." Canine genetics and epidemiology vol. 5 (2018): 2. doi: https://doi.org/10.1186/s40575-018-0058-8
Ahonen S, Seath I, Rusbridge C, Holt S, Key G, Wang T, Wang P, Minassian BA. Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom. Canine Genet Epidemiol. 2018 Mar 27;5:2. doi: 10.1186/s40575-018-0058-8. eCollection 2018. PMID: 29610669; PMCID: PMC5869781.
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Canine Genet Epidemiol. 2018 Mar 27;5:2. doi: 10.1186/s40575-018-0058-8. eCollection 2018.

Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.

Canine genetics and epidemiology

Saija Ahonen, Ian Seath, Clare Rusbridge, Susan Holt, Gill Key, Travis Wang, Peixiang Wang, Berge A Minassian

Affiliations

  1. 1Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8 Canada.
  2. Dachshund Breed Council, Wrington, North Somerset, UK.
  3. Fitzpatrick Referrals Orthopedics and Neurology, Halfway Lane, Eashing, Godalming, Surrey UK.
  4. 5School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey UK.
  5. 2Department of Pediatrics, University of Texas Southwestern, 5323 Harry Blvd, Dallas, TX 75390-9063 USA.

PMID: 29610669 PMCID: PMC5869781 DOI: 10.1186/s40575-018-0058-8

Abstract

BACKGROUND: Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of hundreds dogs in one breed gives valuable information about the breed-wide genotype frequency of disease associated allele. Lafora disease is a late onset, recessively inherited genetic disease which is diagnosed in Miniature Wirehaired Dachshunds (MWHD). It is one of the most severe forms of canine epilepsy leading to neurodegeneration and, frequently euthanasia within a few years of diagnosis. Canine Lafora disease is caused by a dodecamer repeat expansion mutation in the

RESULTS: Blood samples were collected from 733 MWHDs worldwide, mostly of UK origin, for canine Lafora disease testing. Among the tested MWHD population 7.0% were homozygous for the mutation and at risk for Lafora disease. In addition, 234 dogs were heterozygous, indicating a carrier frequency of 31.9% in the tested population. Among the tested MWHDs, the mutant allele frequency was 0.2. In addition, data from the tested dogs over 6 years (2012-2017) indicated that the frequency of the homozygous and carrier dogs has decreased from 10.4% to 2.7% and 41.5% to 25.7%, respectively among MWHDs tested. As a consequence, the frequency of dogs free of the mutation has increased from 48.1% to 71.6%.

CONCLUSIONS: This study provides valuable data for the MWHD community and shows that the DNA test is a useful tool for the breeders to prevent occurrence of Lafora disease in MWHDs. DNA testing has, over 6 years, helped to decrease the frequency of carriers and dogs at risk. Additionally, the DNA test can continue to be used to slowly eradicate the disease-causing mutation in the breed. However, this should be done carefully, over time, to avoid further compromising the genetic diversity of the breed. The DNA test also provides a diagnostic tool for veterinarians if they are presented with a dog that shows clinical signs associated with canine Lafora disease.

Keywords: Canine polyglucosan storage disease; DNA testing; Genetic diversity; Miniature Wirehaired Dachshund; Progressive myoclonic epilepsy

Conflict of interest statement

All samples used in this study were collected from pet dogs with owner permission for the purpose of diagnostic genetic testing for canine Lafora disease at the Hospital for Sick Children, Toronto, Ca

References

  1. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):11476-11481 - PubMed
  2. Cell Metab. 2013 May 7;17(5):756-67 - PubMed
  3. J Biol Chem. 2015 Jan 9;290(2):841-50 - PubMed
  4. Vet Ophthalmol. 2014 Jan;17(1):76-8 - PubMed
  5. Science. 2003 Sep 26;301(5641):1898-903 - PubMed
  6. Front Genet. 2012 Nov 01;3:225 - PubMed
  7. Aust Vet J. 1990 May;67(5):192-3 - PubMed
  8. Am J Pathol. 1970 Mar;58(3):509-30 - PubMed
  9. Cell Metab. 2011 Mar 2;13(3):274-82 - PubMed
  10. J Vet Intern Med. 2002 Mar-Apr;16(2):201-7 - PubMed
  11. PLoS One. 2014 Mar 13;9(3):e91172 - PubMed
  12. N Z Vet J. 1990 Jun;38(2):75-9 - PubMed
  13. Vet Ophthalmol. 2017 Mar;20(2):114-122 - PubMed
  14. Tierarztl Prax. 1991 Jun;19(3):290-5 - PubMed
  15. J Small Anim Pract. 2003 Nov;44(11):511-4 - PubMed
  16. J Small Anim Pract. 2016 Nov;57(11):650-652 - PubMed
  17. PLoS One. 2017 Aug 2;12 (8):e0182024 - PubMed
  18. Vet Rec. 2013 Apr 6;172(14):364 - PubMed
  19. Fed Proc. 1976 Apr;35(5):1202-5 - PubMed
  20. EMBO Mol Med. 2017 Jul;9(7):906-917 - PubMed
  21. Science. 2005 Jan 7;307(5706):81 - PubMed
  22. Canine Genet Epidemiol. 2016 Nov 5;3:8 - PubMed
  23. Nat Genet. 1998 Oct;20(2):171-4 - PubMed
  24. Neurology. 2005 Apr 12;64(7):1311-2 - PubMed
  25. Nat Genet. 2003 Oct;35(2):125-7 - PubMed

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