Cat (Felis catus) — Cerebral dysgenesis, PEA15 related (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Cerebral dysgenesis, PEA15 relatedClin feat: Graff et al. (2020): "Animals with cerebral dysgenesis exhibit spastic tetraparesis and ataxia first apparent around 3–4 weeks of age as they begin to walk. As the animals grow, spasticity and ataxia partially resolve, stabilizing by 6–9 months of age. At approximately 1.5 years, affected cats develop sensory abnormalities and often become aggressive. Sensory abnormalities manifest as stargazing and fly-biting: staring into empty space, and attacking or biting with no stimulus present, respectively. Aggressive behaviors were often erratic, unpredictable and included unprovoked attacks on long-term cage mates and caretakers. Some affected animals had seizures, although abnormal baseline EEG tracings were not observed. There were no deviations from reference intervals in complete blood count, serum biochemistry or urinalysis of affected cats, indicating that apart from the severe neurologic changes there was no additional systemic disease."Pathology: Graff et al. (2020): "At necropsy, affected juvenile and adult cats exhibited generalized microcephaly and polymicrogyria with focal lissencephaly and regional gyral variability .... The most severely affected areas (frontoparietal) often had a cobblestone appearance. The average brain weight of affected cats was 4.3 grams per kilogram of body weight, while for unaffected and carrier cats average brain weight was 7.8 grams per kilogram, indicating a 45% decrease in brain mass ... . In contrast to the significant abnormalities in the cerebral cortex, the size and structure of the cerebellum was normal with no vermal or hemispheric hypoplasia, dysplasia or agenesis. ... Brains from affected cats aged 1–8 months were evaluated histologically in comparison to aged-matched controls ... . Overall, affected cats exhibited variable thinning of the cerebral cortex, especially in dorsal and lateral regions, and disorganization of cortical layers. In severely affected areas, cortical neurons were present in an undulating laminar band reminiscent of gyri, but sulci were largely absent and gyral folds were irregular in size, location, distribution, and orientation. White matter of the corona radiata and internal capsule was markedly decreased in volume, but the corpus callosum was generally spared. Basal nuclei appeared normally organized, as did olfactory tubercles, olfaction tracts and thalamus, although all areas were smaller than age-matched controls. Recapitulating the impressions garnered at necropsy, the cerebellum was normally organized with all layers including an age-appropriate external granule layer in cats younger than 3–4 months."
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 389725101 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Graff et al. (2020) "report that a loss of function variant in PEA15 (XM_023247767.1:c.176delA, XP_023103535.1:p.(Asn59fs), felCat9 chrF1:66768323 GT -> G [omia.variant:1278]) is likely responsible for a form of cerebral dysgenesis in the domestic cat, characterized by microcephaly and polymicrogyria."
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.
- 2020. PEA15 loss of function and defective cerebral development in the domestic cat. PLoS Genet — PubMed:PMID33290415 | DOI:10.1371/journal.pgen.1008671 — OMIA Phene_Article / Article
- 2020. Precision medicine in cats-The right biomedical model may not be the mouse!. PLoS Genet — PubMed:PMID33290388 | DOI:10.1371/journal.pgen.1009177 — 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
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:603434 (type: gene) — OMIA Group_OMIM (via OMIA_ID)