OMIA 002266-9615 : Hyperkeratosis, palmoplantar, DSG1-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 148700 , 615508

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."

Breed: Rottweiler.

Associated gene:

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

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Rottweiler Hyperkeratosis, palmoplantar, DSG1-related DSG1 deletion, small (<=20) CanFam3.1 7 g.58163636_58163640del5 c.2541_2545delGGGCT p.(Gly848Trpfs*2) "It is a frameshift variant, NM_001002939.1:c.2541_2545delGGGCT, predicted to truncate 207 amino acids from the C-terminus of the wildtype DSG1 protein, NP_001002939.1:p.(Gly848Trpfs*2)" (Backel et al., 2020) 2020 32344723

Reference


2020 Backel, K.A., Kiener, S., Jagannathan, V., Casal, M.L., Leeb, T., Mauldin, E.A. :
A <i>DSG1</i> Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. Genes (Basel) 11:, 2020. Pubmed reference: 32344723. DOI: 10.3390/genes11040469.

Edit History


  • Created by Frank Nicholas on 14 May 2020
  • Changed by Frank Nicholas on 14 May 2020