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Darier Disease and Associated Infundibular Cyst Formation

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Test Overview:

Darier Disease in Irish Terriers is inherited in an autosomal dominant manner, meaning a dog with one or two copies of the ATP2A2 gene mutation is at risk of developing the disease. Use of dogs carrying one or two copies of the Darier Disease mutation for breeding is not recommended due to the risk of producing affected puppies. Breeding a dog with one copy of the mutation (heterozygous) to a dog without the mutation typically results in approximately 50% of puppies carrying one copy of the mutation and being at risk. Genetic testing should be performed on breeding candidates to identify carriers or affected dogs and inform responsible mating decisions. Avoid mating two affected or carrier dogs to reduce the incidence of Darier Disease in the breed. Breeders should prioritise overall health and genetic diversity while managing this disease risk through informed breeding practices.

Category:

Dermatologic - Associated with the skin

Gene:

ATP2A2

Variant Detected:

chr26:8434020-8434021 (canFam4): 205 bp ins + 15 bp flanking dup(CTCATGTTCCTTTTC)

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 Dominant

Recommended Screening:

Genetic testing of the ATP2A2 gene will reliably determine if a dog is a genetic carrier of Darier Disease. Surgical removal of cystic nodules or repeated diode laser ablation depending on the nature of lesions.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/32354065/ Linek M, Doelle M, Leeb T, Bauer A, Leuthard F, Henkel J, Bannasch D, Jagannathan V, Welle MM. ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation. Genes (Basel). 2020 Apr 28;11(5):481. [PubMed: 32354065]

Associated Breed(s):

Irish Terrier, Mixed Breed,

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