OMIA:002368-9615 : Ichthyosis, ABHD5-related in Canis lupus familiaris (dog)
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific name: Golden Retriever ichthyosis type 2
Species-specific symbol: ICH2
Species-specific description: Kiener et al. (2022) "investigated 14 Golden Retrievers with scales that were not homozygous for the mutant PNPLA1 allele suggesting a genetically distinct new form of ichthyosis."
Mapping: Kiener et al. (2022): "Combined linkage and homozygosity mapping in 14 cases and 30 non-affected family members delimited a critical interval of ∼12.7 Mb on chromosome 23."
Molecular basis: Kiener et al. (2022): "Whole-genome sequencing of an affected dog revealed a single protein-changing variant within this region that was not present in 795 control genomes. The identified variant is a 14 bp deletion in the ABHD5 gene (c.1006_1019del), leading to a frameshift and altering the last 14 codons p.(Asp336Serfs*6). The genotypes at this variant showed perfect co-segregation with the ichthyosis phenotype in a large family comprising 14 cases and 72 controls."
Clinical features: Kiener et al. (2022) "affected dogs had large white to grey and powdery to adherent scale throughout the hair coat. The abdominal skin was mildly hyperpigmented. Thick white scale was adherent to the concave surface of the pinnae." According to anecdotal reports from breeders, the scaling in ICH2-affected Golden Retrievers may be more severe and adherent than in Golden Retrievers with the PNPLA1-related from of ichthyosis (Kiener et al. 2022).
Pathology: Kiener et al. (2022): "Histopathological examinations showed lamellar, orthokeratotic hyperkeratosis and mildly hyperplastic epidermis that led to the diagnosis of a non-epidermolytic ichthyosis." ... "Histologically, the epidermis in ICH2-affected dogs is thicker than in dogs with the PNPLA1-related ichthyosis and this may correspond with a more severe barrier defect. ICH2 cases tend to have more keratinocytes with perinuclear clear spaces than dogs with the PNPLA1-related ichthyosis."
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABHD5||abhydrolase domain containing 5||Canis lupus familiaris||23||NC_051827.1 (2871778..2837297)||ABHD5||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|
|1388||Golden Retriever||Ichthyosis, ABHD5-related||ABHD5||ICH2||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||23||g.2587000_2587013del||c.1006_1019del||p.(D336Sfs*6)||XM_542689.5; XP_542689.2||2022||34791225|
Cite this entry
|2022||Kiener, S., Wiener, D.J., Hopke, K., Diesel, A.B., Jagannathan, V., Mauldin, E.A., Casal, M.L., Leeb, T. :|
|ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. G3 (Bethesda) 12:jkab397, 2022. Pubmed reference: 34791225 . DOI: 10.1093/g3journal/jkab397.|
- Created by Imke Tammen2 on 26 Jul 2021
- Changed by Imke Tammen2 on 24 Nov 2021
- Changed by Tosso Leeb on 25 Nov 2021
- Changed by Imke Tammen2 on 17 Sep 2022