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Journal of Heredity Advance Access originally published online on June 15, 2005
Journal of Heredity 2005 96(7):745-749; doi:10.1093/jhered/esi074
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© The American Genetic Association. 2005. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org.

Inherited Occipital Hypoplasia/Syringomyelia in the Cavalier King Charles Spaniel: Experiences in Setting Up a Worldwide DNA Collection

Clare Rusbridge, Penny Knowler, Guy A. Rouleau, Berge A. Minassian, and Jan Rothuizen

From the Stone Lion Veterinary Centre, 41 High Street, Wimbledon, SW19 5AU United Kingdom (Rusbridge and Knowler); Neurogenetic Laboratory, McGill University Health Centre Research Institute, Room L7-2241650, Cedar avenue, Montreal (Quebec) Canada H3G 1A4 (Rouleau); Division of Neurology and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8 (Minassian); and Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, University Utrecht, PO BOX 80154, 3508 TD Utrecht, The Netherlands (Rothuizen)

Address correspondence to Clare Rusbridge at the address above, or e-mail: neuro.vet{at}btinternet.com.

Inherited diseases commonly emerge within pedigree dog populations, often due to use of repeatedly bred carrier sire(s) within a small gene pool. Accurate family records are usually available making linkage analysis possible. However, there are many factors that are intrinsically difficult about collecting DNA and collating pedigree information from a large canine population. The keys to a successful DNA collection program include (1) the need to establish and maintain support from the pedigree breed clubs and pet owners; (2) committed individual(s) who can devote the considerable amount of time and energy to coordinating sample collection and communicating with breeders and clubs; and (3) providing means by which genotypic and phenotypic information can be easily collected and stored. In this article we described the clinical characteristics of inherited occipital hypoplasia/syringomyelia (Chiari type I malformation) in the cavalier King Charles spaniel and our experiences in establishing a pedigree and DNA database to study the disease.


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