Toyger — Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-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: Toyger (Cat)Disorder:Mode of inheritance: Autosomal recessiveSummary: Previously listed in OMIA as OMIA:000478-9685 : Holoprosencephaly in Felis catus.Clin feat: Ventriculomegaly with frequent concomitant supratentorial interhemispheric, communicating ventricular type-1b cysts and multiple midline and callosal malformations were detected in all cats displaying neurologic signs (Keating et al., 2016)Defect: yesPrevalence: Yu et al. (2020): This variant was not identified in 192 unaffected cats in the 99 Lives dataset.
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 389754166 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Yu et al. (2020): "Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs, omia.variant:1221]) was identified in affected cats, by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing and genotyped by fragment analyses. . . . T…
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.
- 2016. Characterization of an inherited neurologic syndrome in Toyger cats with forebrain commissural malformations, ventriculomegaly and interhemispheric cysts. J Vet Intern Med — PubMed:PMID26846816 | DOI:10.1111/jvim.13836 — OMIA Phene_Article / Article
- 2020. A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats. Genes (Basel) — PubMed:PMID32575532 | DOI:10.3390/genes11060672 — 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
- 2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — 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:604651 (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."