Renal dysplasia and hepatic fibrosis (RDHN)

LABOKLIN Service ID: 8345

Ciliopathies are characterised by structural or functional defects in the primary cilium. The primary cilium is an antenna like structure that could be found on the cell surface of almost all vertebral cell types. They are known to play an important role in signaling pathways, organogenesis and have been found to function as a sensor of the extracellular environment. In the breed Norwich Terrier, a gene variant could be associated with a lethal ciliopathy that causes cystic renal dysplasia and hepatic fibrosis. The following symptoms have been observed at affected dogs: enlarged and diffusely cystic kidneys, hepatic fibrosis, subcutaneous oedema, hydrothorax, aszites, hypoplastic lungs, cleft palate, diaphragmatic eventration or diaphragmatic hernia. Affected puppies usually die immediately or a few days after birth.

Method	sequencing
Breed list	Norwich Terrier
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab