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First report on the presence of a common pathogenic variant in the PKD1 gene, causing polycystic kidney disease, in a series of related Sphynx cats

cris.virtual.author-orcid0000-0002-1041-3576
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cris.virtualsource.author-orcidb1f9951f-b018-4795-8cff-c7188dd69448
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cris.virtualsource.author-orcid5b5c83e3-837f-42d1-855b-f39952dd433b
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dc.abstract.enPolycystic kidney disease (PKD) is the most common monogenic disease in cats, especially in Persian and related breeds. In this report we describe for the first time PKD in two related families (full sibling tomcats) of Canadian Sphynx cats. Altogether fourteen cats, including five kittens in each family, were investigated using ultrasonography. Cysts were observed in both tomcats and in five kittens (two and three in the litters). The number of cysts in a single kidney varied from one to six. A molecular search for the causative dominant pathogenic variant (Felis_catus_9.0, NC_018738.3: chr E3:g.42858112C>A (c.9882C>A)) in the PKD1 gene showed full concordance with clinical investigations: all cats with cysts in their kidneys were heterozygous (C/A) for this variant.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorSobczak, Marta
dc.contributor.authorSawicz, Zuzanna
dc.contributor.authorWiench, Marlena
dc.contributor.authorNowaczyk-Rzeszotalska, Hanna
dc.contributor.authorKolodziej, Malwina
dc.contributor.authorŚwitoński, Marek
dc.date.accessioned2024-11-28T10:39:27Z
dc.date.available2024-11-28T10:39:27Z
dc.date.issued2024
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if1,3
dc.description.numberNovember–December 2024
dc.description.points70
dc.description.volume63
dc.identifier.doi10.1016/j.tcam.2024.100928
dc.identifier.eissn1946-9837
dc.identifier.issn1938-9736
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/2128
dc.languageen
dc.pbn.affiliationanimal science and fisheries
dc.pbn.affiliationveterinary science
dc.relation.ispartofTopics in Companion Animal Medicine
dc.relation.pagesart. 100928
dc.rightsClosedAccess
dc.sciencecloudsend
dc.subject.enkidney cysts
dc.subject.enCanadian Sphynx cat
dc.subject.enPKD1 gene pathogenic variant
dc.titleFirst report on the presence of a common pathogenic variant in the PKD1 gene, causing polycystic kidney disease, in a series of related Sphynx cats
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.volume63
project.funder.nameStatutory funding 506.534.05.00 from the Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland.