Domestic Shorthair — Sebaceous gland dysplasia, SOAT1-related (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Domestic Shorthair (Cat)Disorder:Mode of inheritance: Probably autosomal recessiveSummary: 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.Clin feat: 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.Defect: yesPathology: 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.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389714446 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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 [omia.variant:1546], encoding sterol O-acyltransferase 1. The protein is localized in the endoplasmic reticulum and catalyzes the f…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2012. Abnormal sebaceous gland differentiation in 10 kittens ('sebaceous gland dysplasia') associated with generalized hypotrichosis and scaling. Vet Dermatol — PubMed:PMID22313039 | DOI:10.1111/j.1365-3164.2011.01029.x — OMIA Phene_Article / Article
- 2023. SOAT1 missense variant in two cats with sebaceous gland dysplasia. Mol Genet Genomics — PubMed:PMID37060467 | DOI:10.1007/s00438-023-02020-6 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:102642 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."