OMIA 002117-9685 : Verrucous epidermal keratinocytic nevi in Felis catus
The trait is embryonic lethal in hemizygous mutant males.Molecular basis: De Lucia et al. (2019): "a heterozygous missense variant in the NSDHL gene: XM_004000985.5:c.397A>G or XP_004001034.1:p.(Ser133Gly). The variant was absent from 93 additional genetically diverse control cats as demonstrated by Sanger sequencing. The variant was predicted to affect the essential serine residue of the catalytic tetrad 109Asn‐133Ser‐160Tyr‐164Lys in the conserved short‐chain dehydrogenase/reductase domain of the feline NSDHL protein and thus most likely leading to a functional inactivation of the protein." Clinical features: De Lucia et al. (2019): "A 2‐year‐old, female, domestic short hair cat with a history of multiple alopecic, verrucous, hyperpigmented and erythematous skin lesions, following Blaschko's lines on the head, the limbs, the trunk and paw pads." The same authors concluded that the clinical signs of this single cat correspond to the "feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN)", which closely resembles a mild form of CHILD syndrome, a disorder caused by mutations in the same gene. Breed: Domestic Shorthair. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NSDHL||NAD(P) dependent steroid dehydrogenase-like||Felis catus||X||NC_058386.1 (124898716..124928295)||NSDHL||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1055||Domestic Shorthair||Inflammatory linear verrucous epidermal nevi||NSDHL||missense||Naturally occurring variant||Felis_catus_9.0||X||g.127926365A>G||c.397A>G||p.(S133G)||XM_004000985.5; XP_004001034.1||2019||30474267||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||De Lucia, M., Bauer, A., Spycher, M., Jagannathan, V., Romano, E., Welle, M., Leeb, T. :|
|Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi. Vet Dermatol 30:64-e18, 2019. Pubmed reference: 30474267. DOI: 10.1111/vde.12699.|
|De Lucia, M., Angileri, M., Bauer, A., Spycher, M., Jaggannathan, V., Denti, D., Di Diodoro, F., Ferro, S., Mezzalira, G., Welle, M., Leeb, T., De Lucia, M., Angileri, M., Bauer, A., Spycher, M., Jaggannathan, V., Denti, D., Di Diodoro, F., Ferro, S., Mezzalira, G., Welle, M., Leeb, T. :|
|X-linked cutaneous mosaicism in a dog. Vet Dermatol 30:361-362, 2019. Pubmed reference: 31012178. DOI: 10.1111/vde.12748.|
|2012||Sato, M., Kariya, K., Matsumoto, M., Itoh, M., Kobayashi, Y., Nishifuji, K., Kamiie, J., Shirota, K. :|
|Feline epidermal nevi resembling human inflammatory linear verrucous epidermal nevus. J Vet Med Sci 74:1337-9, 2012. Pubmed reference: 22672841.|
- Created by Tosso Leeb on 24 Sep 2020
- Changed by Tosso Leeb on 24 Sep 2020
- Changed by Tosso Leeb on 11 Nov 2020