OMIA:002173-9615 : Diffuse cystic renal dysplasia and hepatic fibrosis in Canis lupus familiaris
Categories: Renal / urinary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 213300 (trait) , 613037 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: This disorder is classified as a Hepatorenal fibrocystic disorder (HRFCD)
Inheritance: Dillard et al. (2018): "The pedigree of the affected puppies was suggestive of an autosomal recessive inheritance"
Molecular basis: Dillard et al. (2018) identified "a case-specific homozygous splice donor site variant in a cilia related gene, INPP5E: c.1572+5G>A. . . . We observed that the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon."
Clinical features: Dillard et al. (2018) reported "a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis"
Pathology: Dillard et al. (2018): "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."
Prevalence: Dillard et al. (2018) "genotyped the [INPP5E:c.1572+5G>A] variant in a cohort of 480 Finnish Norwich Terriers. No other homozygous dogs were found in this cohort while 29 of the analyzed dogs were heterozygous and the association of the variant to the disease was significant (p = 8,377 x 10^−37). The carrier frequency was 6% (29/483) and all carrier dogs were close relatives to the affected puppies . . . . In addition, the variant was investigated in 200 dogs from 69 breeds and 3 wolves using publicly available whole genome sequencing data . . . . The variant was not observed in any of the samples."
Breed: Norwich Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|INPP5E||inositol polyphosphate-5-phosphatase E||Canis lupus familiaris||9||NC_051813.1 (49937770..49948230)||INPP5E||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1034||Norwich Terrier||Diffuse cystic renal dysplasia and hepatic fibrosis||INPP5E||splicing||Naturally occurring variant||CanFam3.1||9||g.49069064G>A||c.1572+5G>A||Dillard et al. (2018): "the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon."||2018||30235266|
|2018||Dillard, K.J., Hytönen, M.K., Fischer, D., Tanhuanpää, K., Lehti, M.S., 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 13:e0204073, 2018. Pubmed reference: 30235266 . DOI: 10.1371/journal.pone.0204073.|
- Created by Frank Nicholas on 02 Mar 2019
- Changed by Frank Nicholas on 02 Mar 2019