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Dog DNA testing illustration

Ectodermal Dysplasia / Skin Fragility Syndrome – Chesapeake Bay Retriever Type

Code: H375

74,72 €

Sample details

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

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Short description

Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.

General information

Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia on humane grounds is typically necessary for affected dogs.

This variant (ED-SFS), found in the Golden Retriever and Chesapeake Bay Retriever, is caused by a recessive mutation to the gene PKP1. The closely-related disorder Dystrophic Epidermolysis Bullosa is also found in the Golden Retriever.

Specifications

Breeds

Chesapeake Bay Retriever, Golden Retriever
Gene

PKP1
Chromosome

7
Mutation

c.202+1G>C
Organ

Integumentary System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

ED-SFS

Clinical features

Symptoms of Ectodermal Dysplasia in affected puppies occur immediately after birth, with nose and footpads spontaneously sloughing (rubbing or sliding off). Exposed skin such as ear tips or skin will bleed or slough if licked by the mother or otherwise rubbed. Affected puppies also have finer, thinner fur.

References

Pubmed ID: 22384142

Year published: 2012

Omia ID: 1864

Omia variant ID:

Turnaround information

  • 15 working days