title: Inherited occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel: experiences in setting up a worldwide DNA collection.
abstract: 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.
authors.affiliation: Stone Lion Veterinary Centre, 41 High Street, Wimbledon, SW19 5AU United Kingdom. neuro.vet@btinternet.com
authors.forename: Clare
authors.initials: C
authors.lastname: Rusbridge
authors.forename: Penny
authors.initials: P
authors.lastname: Knowler
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
authors.forename: Jan
authors.initials: J
authors.lastname: Rothuizen
mesh_terms: D000818:Animals; D001139:Arnold-Chiari Malformation / Q000235:genetics / Q000662:veterinary; D001947:Breeding; D030541:Databases, Genetic; D030561:Databases, Nucleic Acid / Q000458:organization & administration; D004283:Dog Diseases / Q000175:diagnosis / Q000235:genetics*; D004285:Dogs; D005260:Female; D008279:Magnetic Resonance Imaging / Q000662:veterinary; D008297:Male; D009777:Occipital Bone / Q000002:abnormalities*; D018579:Patient Selection; D012600:Scoliosis / Q000235:genetics / Q000662:veterinary; D011795:Surveys and Questionnaires; D013595:Syringomyelia / Q000235:genetics / Q000662:veterinary*