Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 102642 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: 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."

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."

Breed: Domestic Shorthair.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: