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Cleft Lip Palate (Nova Scotia Duck Tolling Retriever Type)

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Test Overview:

Genetic Testing: All breeding stock should be tested for both ADAMTS20 (CLPS) and DLX6 (CP1) mutations. Mating: Avoid breeding two carriers of either mutation to prevent affected offspring. Ideal Matings: Clear (N/N) dogs can be bred to carriers (N/CLPS or N/CP1) safely; carriers should only be bred to clear dogs. Affected Dogs: Dogs with two copies of the mutation (CLPS/CLPS or CP1/CP1) should not be bred. Use genetic results and pedigree information to make informed decisions to lower the prevalence of these defects over time.

Category:

Ontogeny / ontogenesis (or simply developmental) - Developmental (Diseases associated with in-utero development)

Gene:

ADAM metallopeptidase with thrombospondin type 1 motif 20 (ADAMTS20) on chromosome 27

Variant Detected:

Nucleotide Deletion c.1360-1361delAA p.Lys453Ilefs*3

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Wolf ZT, et al. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. (2015) PLoS Genet, 11(3): e1005059

Associated Breed(s):

Mixed Breed, Nova Scotia Duck Tolling Retriever ,

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