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H774

Verrucous Epidermal Keratinocytic Nevi is a skin disorder that causes the formation of lesions and hardened scaling.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Verrucous Epidermal Keratinocytic Nevi is a skin disorder that causes the formation of lesions and hardened scaling. It is caused by an semi-dominant, X-linked, homozygous lethal mutation to the gene NSDHL. The variant analysed in this test is one of two known to occur in the Chihuahua. Another variant of the disorder, also known as CHILD-like syndrome, has been observed in the Labrador Retriever.

Clinical features

Affected dogs develop skin lesions along the length of the torso. The skin around these lesions is darkly coloured, with hair loss, tan to brown scales and crusting, and sometimes reddened or malodourous. The dog’s paw pads can become severely hardened, cracked and swollen through hyperkeratosis.

Only female dogs will be affected; as the mutation is homozygous lethal, any male embryos carrying the mutation will spontaneously abort.

Additional information

References

Pubmed ID: 33143176

Omia ID: 2117

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2. Collect DNA sample

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3. Results

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