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This variant of congenital cornification disorder, also known as Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) is caused by a homozygous lethal X-linked incomplete dominant missense mutation in the NAD(P) dependent steroid dehydrogenase-like gene (NSDHL).
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
This variant of congenital cornification disorder, also known as Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) is caused by a homozygous lethal X-linked incomplete dominant missense mutation in the NAD(P) dependent steroid dehydrogenase-like gene (NSDHL). This encodes an enzyme that plays a critical role in cholesterol biosynthesis, which is essential for normal cell membrane structure, signalling, and skin barrier function.
There is a second mutation known in Chihuahuas associated with congenital cornification disorder. This is a small deletion and is tested separately.
Another variant of the disorder, also known as CHILD-like syndrome, has been observed in the Labrador Retriever.
Caractéristiques cliniques
Affected dogs develop skin lesions along the length of their body. 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.
Male embryos carrying the mutation will spontaneously abort due to the homozygou lethality.
Additional Information
Références
Pubmed ID: 31571289
Omia ID: 2117