Ichthyosis (Great Dane)

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Test Overview:

Macroscopically, all dogs showed generalized gray to yellow scaling and skin wrinkles on the head and all 4 extremities. Skin sections were histologically examined using hematoxylin and eosin, Heidenhain's Azan, and Sudan red III staining methods and by conducting the alcian blue/periodic acid Schiff (AB/PAS) reaction technique on sections.

Category:

Dermatologic - Associated with the skin

Gene:

Solute carrier family 27 member 4 (SLC27A4) Chromosome 9

Variant Detected:

Base Substitution c.1268G>A p.Arg417Gln

Severity:

Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Metzger, A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. 2015, PLoS ONE 10(10): e0141514