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OMIA:002793-9685 : Epidermolysis bullosa, junctionalis, COL17A1-related in Felis catus (domestic cat)

Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 113811 (gene) , 619787 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: 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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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. For breeds in which a likely causal variant has been documented, see the variant table below

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

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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
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
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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, 2023. Pubmed reference: 37895184. DOI: 10.3390/genes14101835.

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  • Created by Imke Tammen2 on 03 Nov 2023