OMIA:003060-9615 : Phloiokeratosis, SUV39H1-related in Canis lupus familiaris (dog) |
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300254 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: X-linked incomplete dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Kiener et al. (2026) conducted whole genome sequencing of six affected dogs from four different families including parents of two affected animals: "Whole genome sequencing revealed four independent variants in the SUV39H1 gene [omia.variant:1904-1907] encoding an H3K9 methyltransferase, which is involved in epigenetic silencing of chromatin."
Clinical features: Kiener et al. (2026): Affected dogs presented with "multifocal hyperkeratotic skin lesions. The lesions in male dogs were arranged in a bilaterally symmetrical distribution, whereas in several female cases, lesions followed Blaschko lines and were not symmetric. ... The appearance of the lesions was reminiscent of tree bark."
Pathology: Kiener et al. (2026) describe histological changes as "severe mostly compact epidermal and infundibular hyperkeratosis."
Breeds:
Border Terrier (Dog) (VBO_0200194),
Mixed Breed (Dog) (VBO_0200902),
Saluki (Dog) (VBO_0201171),
Weimaraner (Dog) (VBO_0201401).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SUV39H1 | SUV39H1 histone lysine methyltransferase | Canis lupus familiaris | X | NC_051843.1 (42029500..42044373) | SUV39H1 | Ensembl, NCBI gene |
Variants
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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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1905 | Mixed Breed (Dog) | Phloiokeratosis | SUV39H1 | deletion, small (<=20) | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.42103621_42103622del | XM_038587376 .1:c.543_544del | XP_038443304 .1:p.(C181*) | 2026 | 42350566 | ||||
| 1904 | Weimaraner (Dog) | Phloiokeratosis | SUV39H1 | substitution | missense | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.42103676C>T | XM_038587376 .1:c.596C>T | XP_038443304 .1:p.(S199L) | 2026 | 42350566 | ||||
| 1906 | Border Terrier (Dog) | Phloiokeratosis | SUV39H1 | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.42103740_42103745del | XM_038587376 .1:c.661_666del | XP_038443304.1:p.(E221_C222del) | 2026 | 42350566 | ||||
| 1907 | Saluki (Dog) | Phloiokeratosis | SUV39H1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.42111103del | XM_038587376 .1:c.1189del | XP_038443304 .1:p.(R397Vfs*75) | 2026 | 42350566 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003060-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Kiener, S., Rietmann, S.J., Soto, S., Ramos, S.J., Pucheu-Haston, C.M., Wu, C.Y., Wheatcraft, D., Simpson, A., Åhman, S., Wildermuth, B.E., Drögemüller, M., Jagannathan, V., Bradley, C.W., Mauldin, E.A., Meertens, N.M., Welle, M., Leeb, T. : |
| Phloiokeratosis is a new ichthyosiform hyperkeratotic cornification disorder in dogs with SUV39H1 variants. Sci Rep , 2026. Pubmed reference: 42350566. DOI: 10.1038/s41598-026-59288-y. |
Edit History
- Created by Imke Tammen on 28 Jun 2026
- Changed by Imke Tammen on 28 Jun 2026