OMIA 002368-9615 : Ichthyosis, ABHD5-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 604780 (gene) , 275630 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: Golden Retriever ichthyosis type 2

Species-specific symbol: ICH2

Species-specific description: Kiener et al. (2021) "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. (2021): "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. (2021): "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. (2021) "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. 2021).

Pathology: Kiener et al. (2021): "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."

Breed: Golden Retriever.

Associated gene:

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

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
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 2021 34791225

Reference


2021 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) :, 2021. Pubmed reference: 34791225. DOI: 10.1093/g3journal/jkab397.

Edit History


  • Created by Imke Tammen2 on 26 Jul 2021
  • Changed by Imke Tammen2 on 24 Nov 2021
  • Changed by Tosso Leeb on 25 Nov 2021