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Cleft Palate and Syndactyly (Nova Scotia Duck Tolling Retriever Type)

Cleft Palate and Syndactyly (Nova Scotia Duck Tolling Retriever Type) is an inherited developmental condition in dogs, characterized by facial deformities including clefts in the upper lip and palate, along with fused toes.

Affected Genes: ADAMTS20

Inheritance: Autosomal Recessive With Variable Expressivity

Variant(canFam6):
chr27:35748670-35748671: 2 bp deleton TT

Breed: Nova Scotia Duck Tolling Retriever

General Information: Cleft Palate and Syndactyly (Nova Scotia Duck Tolling Retriever Type) is a genetic disorder that manifests at birth in affected dogs. It presents with varying degrees of facial abnormalities, such as incomplete fusion of the upper lip (clefts) near the nostrils, extending to incomplete fusion of the palate, creating an open connection between the nasal cavity and mouth. Additionally, affected dogs commonly exhibit partial or complete fusion (syndactyly) of the third and fourth toes on one or more feet.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the ADAMTS20 gene identifies dogs as carriers of Cleft Palate and Syndactyly (Nova Scotia Duck Tolling Retriever Type). This disease follows an Autosomal Recessive inheritance pattern, necessitating two copies of the mutated gene (one from each parent) for a dog to develop symptoms. Carriers of the mutation do not show signs of the disease themselves. However, breeding two carriers increases the likelihood of producing affected offspring. Each puppy from such a breeding pair has a 25% chance of inheriting two copies of the mutated gene, resulting in the disease, a 50% chance of inheriting one copy and being a carrier like the parents, and a 25% chance of inheriting no copies and being clear of the mutation. Conducting reliable genetic testing before breeding is crucial to avoid passing on the mutation and to promote the health of future generations. Breeding practices should avoid mating known carriers to each other to prevent the birth of affected puppies. Dogs that test negative for the mutation do not carry the risk of producing affected offspring.

References:
Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Boaz A, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FWB, Murray JC, Wade CM, Marazita ML, Bannasch DL. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate. PLoS Genet. 2015 11(3):e1005059.