Peer-reviewed veterinary case report
Genetic cause of hereditary kidney disease in English Springer
By Nowend, K L et al.·Published in Journal of veterinary internal medicine·2012·Department of Genetics and Biochemistry, United States·View original on PubMed →
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Original publication title: Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel.
- Species:
- dog
Plain-English summary
Two English Springer Spaniels were diagnosed with a genetic kidney disease called autosomal recessive hereditary nephropathy (ARHN), which had not been previously reported in this breed. Researchers found a specific mutation in the COL4A4 gene that likely causes this condition. Testing revealed that many related dogs could be carriers of the mutation, which means they could pass it on to their puppies. This discovery is important for breeders and owners to help manage and prevent kidney issues in English Springer Spaniels.
People also search for: English Springer Spaniel kidney disease · hereditary nephropathy in dogs · dog genetic testing for kidney problems
Abstract
BACKGROUND: Autosomal recessive hereditary nephropathy (ARHN) was diagnosed in 2 English Springer Spaniels (ESS), a breed not previously reported to be affected by hereditary nephropathy (HN). OBJECTIVE: To identify and characterize the genetic cause of ARHN in ESS. ANIMALS: Sixty-three ESS (2 with ARHN, 2 obligate carriers, and 59 others), 2 mixed-breed dogs with X-linked HN, and 2 English Cocker Spaniels (ECS) with ARHN were included. METHODS: ARHN was diagnosed based on transmission electron microscopy and immunostaining of kidney. DNA from affected dogs was screened for the mutation known to cause ARHN in ECS. Quantities of COL4A3, COL4A4, and COL4A5 mRNA transcripts in renal cortex were determined using quantitative reverse transcription-polymerase chain reaction (qRT-PCR) for ARHN-affected dogs and 7 other dogs. The coding regions of COL4A3 and COL4A4 were sequenced for the 2 ARHN-affected ESS and an unaffected dog. Exon 30 of COL4A4 was sequenced for all 63 ESS. RESULTS: qRT-PCR indicated a significant reduction in transcript levels of both COL4A3 and COL4A4 mRNA in the kidney of ARHN-affected ESS. Sequencing identified a single nucleotide substitution in COL4A4 at base 2806 resulting in a premature stop codon. Thirteen of 25 related dogs were identified as carriers. CONCLUSIONS AND CLINICAL IMPORTANCE: A mutation highly likely to cause ARHN in ESS has been identified.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22369189/