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Dog DNA testing illustration

Hereditary Footpad Hyperkeratosis ( FNEPPK1, KRT16-related) – Dogue de Bordeaux

Code: H444

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder found in the Dogue de Bordeaux, causing severe and painful thickening and cracking of the paw pads.

General information

Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder found in the Dogue de Bordeaux, causing severe and painful thickening and cracking of the paw pads. It is caused by a recessive mutation to the gene KRT16. It is also known as Focal Non-Epidermolytic Palmoplantar Keratoderma-1 (FNEPPK1).

Specifications

Breeds

Dogue de Bordeaux

Gene

KRT16

Chromosome

9

Mutation

c.[1147_1148delinsCGGA;1165del]

Organ

Skeletal system

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Also known as

FNEPPK1; HFH

Clinical features

Onset of HFH (aka FNEPPK1) can occur anywhere between 10 weeks and 1 year of age. The main symptom is a painful thickening of the paw pads, as well as the formation of cracks and/or lumpy growths of keratin. The cracks pose a risk of infection, which can in turn cause lameness.

References

Pubmed ID: 25521457

Year published: 2015

Omia ID: 2088

Omia variant ID:

Turnaround information

  • 15 working days