OMIA:002793-9685 : Epidermolysis bullosa, junctionalis, COL17A1-related in Felis catus (domestic cat) |
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 113811 (gene) , 619787 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Kiener et al. (2023) investigated two unrelated cats with epidermolysis bullosa (EB): "Whole genome sequencing of both affected cats revealed independent homozygous variants in COL17A1 encoding the collagen type XVII alpha 1 chain. ... The identified splice site variant in case 1 [American Shorthair], c.3019+1del, was predicted to lead to a complete deficiency in collagen type XVII. Case 2 [European Shorthair] had a splice region variant, c.769+5G>A. Assessment of the functional impact of this variant on the transcript level demonstrated partial aberrant splicing with residual expression of wildtype transcript."
Clinical features: Kiener et al. (2023) "investigated two unrelated cats with recurring erosions and ulcers on ear pinnae, oral mucosa, and paw pads that were suggestive of EB. ... Case 1 [American Shorthair] was severe and had to be euthanized at 5 months of age. Case 2 [European Shorthair] had a milder course and was alive at 11 years of age ... ."
Pathology: Kiener et al. (2023): "Histopathology confirmed the diagnosis of EB in both cats."
Breeds:
American Shorthair (Cat) (VBO_0100018),
European Shorthair (Cat) (VBO_0100094).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| COL17A1 | collagen, type XVII, alpha 1 | Felis catus | D2 | NC_058378.1 (62168085..62117221) | COL17A1 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1634 | American Shorthair (Cat) | Epidermolysis bullosa, junctional, COL17A1-related | COL17A1 | splicing | Naturally occurring variant | F.catus_Fca126_mat1.0 | D2 | g.62124169del | c.3019+1del | XM_006938156.5; variant reported in a single affected cat | 2023 | 37895184 | ||||
| 1635 | European Shorthair (Cat) | Epidermolysis bullosa, junctional, COL17A1-related | COL17A1 | splicing | Naturally occurring variant | F.catus_Fca126_mat1.0 | D2 | g.62149308C>T | c.769+5G>A | p.([=,p.Val257Glyfs*82]) | XM_006938156.5; XP_006938218.3, variant described in a single affected cat | 2023 | 37895184 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002793-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Kiener, S., Troyer, H., Ruvolo, D., Grest, P., Soto, S., Letko, A., Jagannathan, V., Leeb, T., Mauldin, E.A., Yang, C., Rostaher, A. : |
| Independent COL17A1 variants in cats with junctional epidermolysis bullosa. Genes (Basel) 14:1835, 2023. Pubmed reference: 37895184. DOI: 10.3390/genes14101835. |
Edit History
- Created by Imke Tammen2 on 03 Nov 2023