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Ichthyosis (Great Dane Type)

Ichthyosis (Great Dane Type) is an inherited skin disorder in Great Danes and related breeds, causing severe skin thickening, scaling, and risk of secondary infections, often leading to euthanasia due to poor quality of life.

Affected Genes: SLC27A4

Inheritance: Autosomal Recessive

Variant(canFam6):
chr9:54363891: C>T

Breed: Danoodle
Great Dane

General Information: Ichthyosis (Great Dane Type) is a genetic skin disease that primarily affects Great Danes and related breeds like Danoodles. This condition typically manifests as early as one week of age with symptoms that include greasy, scaly, thickened, and wrinkled skin, particularly severe around the eyes and nose. The thickened skin can lead to painful folds, which are prone to secondary bacterial infections. The swollen skin around the eyes can also impede the opening of the eyes after birth, further complicating the condition. Due to the severity of the symptoms and the significant impact on the affected dog's quality of life, euthanasia is commonly considered within the first few months of life. Management of this condition is challenging, and the focus is often on preventing secondary infections and improving the comfort of the affected dogs.

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 the SLC27A4 gene is crucial for identifying carriers of the mutation responsible for Ichthyosis (Great Dane Type) in dogs. This disease 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 condition. Carrier dogs, which have 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 puppy has a 25% chance of being affected by ichthyosis and a 50% chance of being a carrier. Reliable genetic testing is essential for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies with ichthyosis. By identifying carriers and making informed breeding decisions, breeders can help eliminate this severe skin disorder from the affected breeds, ensuring healthier and more resilient future generations. It is also important to note that while genetic testing for the SLC27A4 mutation can reduce the risk of ichthyosis, other genetic or environmental factors may still influence similar skin conditions, necessitating comprehensive genetic screening and careful management.

References:
Hoffman A, Metzger J, Wohlke A, Peters M, Junginger J, Mischke R, Distl O, Hewicker- Trautwein M. Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation. Vet Pathol. 2016 53(3):614-620.

Metzger J, Wohlke A, Mischke R, Hoffmann A, Hewicker-Trautwein M, Kuch E, Naim HY, Distl O. A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. PLoS One 2015 10(10):e0141514.