Chihuahua — Leigh syndrome, NDUFS7-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: Chihuahua (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Christen et al. (2024): Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Disease onset was at ~4 months of age and the two dogs were euthanized at ~6 months of age due to the severity of their clinical phenotype.Defect: yesPathology: Christen et al. (2024): Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed variability in myofiber size and some accumulations of mitochondria. Ragged red fibers were not obvious.
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 398298884 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Christen et al. (2024): "Whole genome sequencing [of an affected Jack-Russell Terrier × Chihuahua cross] identified a missense variant in a gene associated with human Leigh syndrome, <em>NDUFS7</em>:c.535G&>A or p.(Val179Met). The genotypes at the variant co-segregated with the phenotype in the investigated litter as expected for a monogenic autosomal recessive mode of inheritance. [The authors]…
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.
- 2024. NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Sci Rep — PubMed:PMID38316835 | DOI:10.1038/s41598-024-53314-7 — 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:601825 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:256000 (type: trait) — 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."