A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs.

ABSTRACT: Ciliopathies presenting as inherited hepatorenal fibrocystic disorders are rare in humans and in dogs. We describe here a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis. The histopathological findings were typical for cystic renal dysplasia in which the cysts were located in the straight portion of the proximal tubule, and thin descending and ascending limbs of Henle's loop. The pedigree of the affected puppies was suggestive of an autosomal recessive inheritance and therefore, whole exome sequencing and homozygosity mapping were used for identification of the causative variant. The analyses revealed a case-specific homozygous splice donor site variant in a cilia related gene, INPP5E:

SUBMITTER: Dillard KJ 

PROVIDER: S-EPMC6147468 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature