OMIA:002669-9685 : Sebaceous gland dysplasia, SOAT1-related in Felis catus (domestic cat)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 102642 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Kiener et al. (2023) investigated 2 domestic shorthair kittens with sebaceous gland dysplasia. Clinical and histopathological changes were similar but not identical to previously reported cases of sebaceous gland dysplasia in cats (Yager et al. 2012, OMIA:001710-9685 : Sebaceous gland dysplasia in Felis catus) and genetic analysis suggests genetic heterogeneity of this phenotype.
Molecular basis: Kiener et al. (2023) "Whole genome sequencing on both affected kittens and 65 genetically diverse feline genomes was performed. Filtering for variants that were present in both kittens but absent from the control genomes revealed a homozygous missense variant in SOAT1, encoding sterol O-acyltransferase 1. The protein is localized in the endoplasmic reticulum and catalyzes the formation of cholesteryl esters, an essential component of sebum and meibum. ... We further genotyped archived samples from 10 additional cats [including one cat from the Yager et al. (2012) study] with a similar clinical and histopathological phenotype, as well as 716 genetically diverse population controls from the Vetsuisse Biobank, all of which were homozygous wildtype."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Kiener et al. (2023) "investigated two 4-month-old sibling domestic short haired kittens with dry dark debris around the eyes, nose, and ears, dark crusting on the legs and a thin poor hair coat."
Pathology: Kiener et al. (2023) "Skin biopsies revealed abnormal sebaceous gland morphology with lack of normal sebocyte arrangement and differentiation. Hair follicles had a distorted silhouette, interpreted as a change secondary to the observed sebaceous gland dysplasia."
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|
|SOAT1||sterol O-acyltransferase 1||Felis catus||F1||NC_058384.1 (20834296..20917184)||SOAT1||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|
|1546||Domestic Shorthair||Sebaceous gland dysplasia||SOAT1||missense||Naturally occurring variant||F.catus_Fca126_mat1.0||F1||g.20914140G > A||c.1531G>A||p.(G511R)||XM_011291017.4; XP_011289319.1||2023||37060467|
Cite this entry
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.
|2023||Kiener, S., McMahill, B.G., Affolter, V.K., Welle, M., Yager, J.A., Jagannathan, V., Leeb, T. :|
|SOAT1 missense variant in two cats with sebaceous gland dysplasia. Mol Genet Genomics , 2023. Pubmed reference: 37060467. DOI: 10.1007/s00438-023-02020-6.|
|2012||Yager, J.A., Gross, T.L., Shearer, D., Rothstein, E., Power, H., Sinke, J.D., Kraus, H., Gram, D., Cowper, E., Foster, A., Welle, M. :|
|Abnormal sebaceous gland differentiation in 10 kittens ('sebaceous gland dysplasia') associated with generalized hypotrichosis and scaling. Vet Dermatol 23:136-44, e30, 2012. Pubmed reference: 22313039. DOI: 10.1111/j.1365-3164.2011.01029.x.|
- Created by Imke Tammen2 on 21 Apr 2023
- Changed by Imke Tammen2 on 21 Apr 2023