Dry Eye Curly Coat Syndrome
Affected Genes: FAM83H
Inheritance: Autosomal Recessive
Variant(canFam6):
chr13:37284593: 1 bp deletion C
Breed: Australian Cobberdog
Cavalier King Charles Spaniel
Cavapoo
Cavapoochon
General Information: Dry Eye Curly Coat Syndrome (DECC) is a genetic disorder that manifests in dogs, particularly affecting their eyes, skin, and feet. Typically diagnosed between 2 to 10 weeks of age, affected dogs suffer from keratoconjunctivitis sicca, commonly known as “dry eye,” which results from abnormal tear production. This condition often leads to mucoid, green discharge around the eyes and severe corneal ulcers. Additionally, dogs with DECC experience ichthyosiform dermatosis, characterized by frizzy, sparse hair, dry flaky skin, thickened foot pads, and malformed nails. The skin on the footpads and nails can slough off, making standing and walking painful. Affected dogs are also predisposed to dental disease, further impacting their overall health and quality of life.
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 for Dry Eye Curly Coat Syndrome (DECC) involves screening for mutations in the FAM83H gene to determine carrier status. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers of the gene mutation do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent producing affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Genetic testing is essential for responsible breeding practices, ensuring that dogs not carrying the mutation do not pose a risk of producing affected puppies.
References:
Barnett KC. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract. 2006 47(9):524-528.
Hartley C, Donaldson D, Smith KC, Henley W, Lewis TW, Blott S, Mellersh C, Barnett KC. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs - Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol. 2012 15(5):315-326.