--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia4746_cat category: companion-breed-health title: "Domestic Shorthair — Hair shaft dysplasia, DSG4-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/domestic_shorthair_omia4746_4746.txt date_parsed: 2026-08-02 tokens_estimated: 472 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia4746_cat/01_companion_breed_health_domestic_shorthair_omia4746_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — Hair shaft dysplasia, DSG4-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002452/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Domestic Shorthair — Hair shaft dysplasia, DSG4-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: Autosomal recessiveClin feat: Rostaher et al. (2021) described the clinical and histopathological phenotype in two out of four affected siblings in a litter of domestic shorthair cats. Both cats presented with extensive alopecia of the dorsal thorax, plantar and palmar surfaces of the limbs, convex pinnae and most of the face. The cats were multicoloured and neither had alopecia associated with a specific coat colour. In addition to the affected truncal hairs, the vibrissae were short and broken. Macroscopic evaluation of the skin surface revealed many short, broken hair shafts, some of which had club or lance-head shaped ends. In addition to the unremarkable general physical examination, the nails, teeth, eyes and skin texture were unaffected. (Rostaher et al., 2021) Figure 2 of Kiener et al. (2022) compared the phenotypes of the original litter identified by Rostaher et al. (2021) and an unrelated case with an independent DSG4 variant. All investigated cats shared similar clinical features comprising partial alopecia and the presence of characteristic lance-shaped hair tips.Defect: yesPathology: Light and scanning electron microscopy of the hairs revealed lance- or spear-head shaped defects of the hair tip. Histological findings were swollen hair shafts, initially above the hair bulb matrix and later found in the distal parts of the telogen hair follicles, similar to those observed in Dsg4^lahJ Krt75^tm1Der mutant mice. Transmission electron microscopy of the hair shaft and hair follicles showed a loss in the normal structure of the guard hairs in the alopecic cats. There was a statistically significant decrease in sulfur content just below the defects in the hair shafts (trichothiodystrophy). (Rostaher et al., 2021).
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 389717553 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kiener et al. (2022) investigated two unrelated domestic shorthair cats with partial alopecia and bulbous swellings of the hair shafts. Based on the striking phenotype resembling lanceolate mice, the authors focused their analysis on DSG4 encoding desmoglein 4 as the top functional candidate gene. The authors "sequenced the genomes from both affected cats and compared the data of each affected cat…
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.
- 2021. Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice. Vet Dermatol — PubMed:PMID33470013 | DOI:10.1111/vde.12925 — OMIA Phene_Article / Article
- 2022. Independent DSG4 frameshift variants in cats with hair shaft dystrophy. Mol Genet Genomics — PubMed:PMID34878611 | DOI:10.1007/s00438-021-01842-6 — OMIA Phene_Article / Article
- 2013. A case of pili torti in a young adult domestic short-haired cat. Vet Dermatol — PubMed:PMID23384010 | DOI:10.1111/vde.12004 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — OMIA Phene_Article / Article
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."