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Ichthyosis 2, ABHD5 Gene- Golden Retriever

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: 002368-9615


Breeds 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

C$65.00Price

5 tests et + 55$ch.

Quantity

 Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.

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