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Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

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Test Overview:

Screening breeding dogs for the INPP5E mutation is critical to reduce disease incidence. Carrier dogs (one copy) can be bred safely with clear dogs but should not be bred to other carriers. Puppies from at-risk litters should be genetically tested before breeding consideration

Category:

Ontogeny / ontogenesis (or simply developmental) - Developmental (Diseases associated with in-utero development)

Gene:

INPP5E

Variant Detected:

chr9:49069064 (canFam3): G/A

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

ultrasonography or microscopic tissue examination

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/30235266/ Dillard KJ, Hytonen MK, Fischer D, Tanhuanpaa K, Lehti MS, Vainio-Siukola K, Sironen A, Anttila M. A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PLoS One. 2018 Sep 20;13(9):e0204073. doi: 10.1371/journal.pone.0204073. [PubMed: 30235266]

Associated Breed(s):

Mixed Breed, Norwich Terrier,

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