Candidate causative variant for xanthinuria in a Domestic Shorthair cat.

Autor: Pritchard E; Sydney School of Veterinary Science, Faculty of Science, Valentine Charlton Cat Centre, University of Sydney, Camperdown, New South Wales, 2006, Australia., Samaha G; Sydney School of Veterinary Science, Faculty of Science, University of Sydney, Camperdown, New South Wales, 2006, Australia., Mizzi K; Eurobodalla Mobile Vet, Rosedale, New South Wales, 2536, Australia., Boland L; Sydney School of Veterinary Science, Faculty of Science, Valentine Charlton Cat Centre, University of Sydney, Camperdown, New South Wales, 2006, Australia., Haase B; Sydney School of Veterinary Science, Faculty of Science, University of Sydney, Camperdown, New South Wales, 2006, Australia.
Jazyk: angličtina
Zdroj: Animal genetics [Anim Genet] 2023 Aug; Vol. 54 (4), pp. 576-580. Date of Electronic Publication: 2023 Mar 27.
DOI: 10.1111/age.13318
Abstrakt: Xanthinuria is a clinically significant form of urolithiasis in cats with poor clinical outcomes and limited treatment options. In humans, xanthinuria has an autosomal recessive mode of inheritance, with variants in xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS) responsible for cases. While causative genetic variants have not been identified in the domestic cat, a recessive mode of inheritance has been suggested. DNA was extracted from EDTA-stabilised blood obtained from a Domestic Shorthair cat with clinically confirmed xanthinuria. Whole-genome sequencing and variant assessment in XDH and MOCOS identified XDH:c.2042C>T (XDH:p.(A681V)) as a candidate causative variant for xanthinuria in this cat. The variant is located in a highly conserved part of the molybdenum-pterin co-factor domain, responsible for catalysing the hydroxylation of hypoxanthine to xanthine and uric acid. Variants in this domain of XDH have been shown to disrupt enzyme function and to cause xanthinuria in other species. When assessed in the wider cat population, the variant had an allele frequency of 15.8%, with 0.9% of the animals assessed homozygous for the alternative allele. Cats diagnosed with xanthinuria should be tested for this variant to validate its clinical relevance in the wider population.
(© 2023 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.)
Databáze: MEDLINE
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