Study Start Date: 01/01/2009
Study End Date: 12/31/2010

Structural birth defects have a multifactorial inheritance, with both genetic and environmental factors. These can result from a nutritional deficiency in mothers who have a genetic propensity to produce offspring with structural birth defects. Several breeds of dog including English Bulldogs, Boston Terriers, Boxers, Pugs, and French Bulldogs show a high prevalence of spina bifida (SB) and cleft lip/palate (CL/P), suggesting a genetic component in canine structural birth defects. We are interested in the relationship between brachycephalic breeds and structural birth defects, and are thus limiting our study to such breeds. We are collecting samples to conduct an association study between affected and unaffected dogs. Our study aims to identify candidate genes that may either cause the condition(s) or be involved in canine structural birth defects.

Study Design:
Retrospective case-controlled

Sample Size:
200 dogs

Inclusion Criteria:

• Brachycephalic dogs with spina bifida and/or cleft lip/palate

Study Controls:

• Brachycephalic dogs without structural birth defects; dogs with no family history of structural birth defects preferred.

Study Endpoints:

Primary endpoint: Identification of mutation(s) causing spina bifida and cleft lip/palate in brachycephalic breeds.

Secondary endpoint: Development of a spina bifida and/or cleft lip/palate genetic test for breeders.

Samples:
Whole, unclotted blood in an EDTA tube. Samples may be refrigerated for several days before shipping. Ship overnight on ice packs Monday through Thursday.

If veterinarians know of a SB or CL/P affected puppy scheduled for euthanasia, and would be willing to collect tissue, contact Dr. Starr at least one day in advance for instructions and materials.

Files for Download:

• Sampling Instructions
• Client Consent Form
• Submission Form and Instructions

Costs/Reimbursements
The first 100 samples submitted will be given a 3rd party billing number for FedEx for overnight sample shipment.

Full Disclosure information:

• The study is funded by an intramural grant.
• The investigator does not have a conflict of interest.
• The study will be published if results are negative
• The study will be reported on VIN
• The authors will acknowledge VIN if the study is published