OMIA:002266-9615 : Hyperkeratosis, palmoplantar, DSG1-related in Canis lupus familiaris
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 148700 (trait) , 615508 (trait) , 125670 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific name: Hereditary footpad hyperkeratosis (HFH)
Molecular basis: Backel et al. (2020) "sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma (PPK) revealed a single private protein-changing variant in the affected dog. This was located in the DSG1 gene encoding desmoglein 1. . . . The identified canine variant, DSG1:c.2541_2545delGGGCT, leads to a frameshift and truncates about 20% of the coding sequence. The affected dog was homozygous for the mutant allele."
Clinical features: Backel et al. (2020): "A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DSG1||desmoglein 1||Canis lupus familiaris||7||NC_051811.1 (58179775..58144506)||DSG1||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|
|1194||Rottweiler||Hyperkeratosis, palmoplantar, DSG1-related||DSG1||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||7||g.58163636_58163640del||c.2541_2545del||p.(G848Wfs*2)||NM_001002939.1; NP_001002939.1; published as c.2541_2545delGGGCT||2020||32344723|
|2020||Backel, K.A., Kiener, S., Jagannathan, V., Casal, M.L., Leeb, T., Mauldin, E.A. :|
|A DSG1 frameshift variant in a Rottweiler dog with footpad hyperkeratosis. Genes (Basel) 11:469, 2020. Pubmed reference: 32344723 . DOI: 10.3390/genes11040469.|
- Changed by Frank Nicholas on 14 May 2020
- Created by Frank Nicholas on 14 May 2020