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Renal Dysplasia and Hepatic Fibrosis (RDHN) - Norwich Terrier Type
| Acronym: | RDHN |
| Gene: | INPP5E |
| Mutation: | c.1572+5G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Renal dysplasia and hepatic fibrosis (RDHN) is genetic hepatorenal fibrocystic disorder, also known as ciliopathy. RDHN is a rare disorder in dogs, but with the highest disease incidence in dog breed Norwich Terriers. This type of ciliopathy is lethal in puppies and is characterized by cysts located in the proximal tubule and limbs of Henle’s loop in kidneys. The cause of RDHN in Norwich Terriers is a mutation that introduces a novel splice site in INPP5E gene causing a formation of a premature stop codon and therefore a loss-of-function protein. The protein encoded by the INPP5E gene is located in primary cilium, a small organelle involved in calcium signal transduction.
RDHN in Norwich Terriers is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Dillard, K. J., Hytönen, M. K., Fischer, D., Tanhuanpää, K., Lehti, M. S., Vainio-Siukola, K., Sironen, A., & Anttila, M. (2018). A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PloS one, 13(9), e0204073. https://doi.org/10.1371/journal.pone.0204073