OMIA 002452-9685 : Hair shaft dysplasia, DSG4-related in Felis catus
Figure 2 of Kiener et al. (2022) compared the phenotypes of the original litter identified by Rostaher et al. (2021) and an unrelated case with an independent DSG4 variant. All investigated cats shared similar clinical features comprising partial alopecia and the presence of characteristic lance-shaped hair tips.Pathology: "Light and scanning electron microscopy of the hairs revealed lance- or spear-head shaped defects of the hair tip. Histological findings were swollen hair shafts, initially above the hair bulb matrix and later found in the distal parts of the telogen hair follicles, similar to those observed in Dsg4^lahJ Krt75^tm1Der mutant mice. Transmission electron microscopy of the hair shaft and hair follicles showed a loss in the normal structure of the guard hairs in the alopecic cats. There was a statistically significant decrease in sulfur content just below the defects in the hair shafts (trichothiodystrophy)." (Rostaher et al., 2021). Breed: Domestic Shorthair. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DSG4||desmoglein 4||Felis catus||D3||NC_058379.1 (53088837..53132546)||DSG4||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|
|1392||Domestic Shorthair||Hair shaft dysplasia||DSG4||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||D3||g.55315010del||c.76del||p.(I26Lfs*4)||XM_019815116.1; XP_019670675.1||2022||34878611|
|1393||Domestic Shorthair||Hair shaft dysplasia||DSG4||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||D3||g.55336127del||c.1777del||p.(H593Tfs*23)||XM_019815116.1; XP_019670675.1||2022||34878611|
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.
|2022||Kiener, S., Rostaher, A., Rüfenacht, S., Jagannathan, V., Sundberg, J.P., Welle, M., Leeb, T. :|
|Independent DSG4 frameshift variants in cats with hair shaft dystrophy. Mol Genet Genomics 297:147-154, 2022. Pubmed reference: 34878611. DOI: 10.1007/s00438-021-01842-6.|
|2021||Rostaher, A., Bettenay, S., Specht, L., Silva, K.A., Bechtold, L., Chen, J., Majzoub, M., Mueller, R.S., Sundberg, J.P. :|
|Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice. Vet Dermatol 32:74-e14, 2021. Pubmed reference: 33470013. DOI: 10.1111/vde.12925.|
|2013||Maina, E., Colombo, S., Abramo, F., Pasquinelli, G. :|
|A case of pili torti in a young adult domestic short-haired cat. Vet Dermatol 24:289-e68, 2013. Pubmed reference: 23384010. DOI: 10.1111/vde.12004.|
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