Back

Cleft Palate (DLX6-related)

Affected Genes: DLX6

Inheritance: Autosomal Recessive

Variant(canFam6):
chr14:21635432-21635433 2056 bp insertion

Breed: Nova Scotia Duck Tolling Retriever

General Information: Cleft Palate (DLX6-related) is an inherited developmental disorder in dogs characterized by an opening in the roof of the mouth due to the incomplete fusion of the palate during embryonic development. This condition results from a genetic mutation in the DLX6 gene, which plays a crucial role in craniofacial development. Dogs with two copies of the associated gene mutation are predisposed to this condition, which is usually apparent at birth. Symptoms include difficulty nursing, nasal discharge, coughing, and poor growth. Affected puppies may struggle to feed properly, leading to malnutrition and failure to thrive. Surgical intervention is often required to correct the cleft and improve the dog's ability to eat and drink. Early detection and supportive care are essential to manage the condition and ensure the puppy's health and development.

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 DLX6 gene can determine if a dog is a carrier of Cleft Palate (DLX6-related). This condition is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.

References:
Wolf ZT, Leslie EJ, Arzi B, Jayashankar K, Karmi N, Jia Z, Rowland DJ, Young A, Safra N, Sliskovic S, Murray JC, Wade CM, and Bannasch DL. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet. 2014 10(4):e1004257.