Affected gene: ABDH5
Transmission: Autosomal recessive with variable expressivity
Mutation: CanFam3.1 23 g.2587000_2587013del c.1006_1019del 14 bp deletion (GACTTCAACCAGAA)
OMIA link: 002368-9615Breeds suitable for testing : Golden Retriever
Symptoms:
Kiener et al. (2022) "Affected dogs had large, white to gray, powdery to adherent scales over the entire coat. The abdominal skin was slightly hyperpigmented. Thick white scales adhered to the concave surface of the pinnae." Anecdotal reports from breeders suggest that scaling in Golden Retrievers affected by ICH2 may be more severe and adherent than in Golden Retrievers with PNPLA1-related ichthyosis (Kiener et al. 2022).
References:
Kiener, S., Wiener, D.J., Hopke, K., Diesel, A.B., Jagannathan, V., Mauldin, E.A., Casal, M.L., Leeb, T.:
ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. G3 (Bethesda) 12:jkab397, 2022. Pubmed reference: 34791225. DOI: 10.1093/g3journal/jkab397.
Ichthyosis 2, ABHD5 Gene- Golden Retriever
5 tests et + 55$ch.
Délais de traitement
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