Schnauzer, Standard — Leukodystrophy, TSEN54-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: Schnauzer, Standard (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Störk et al. (2019): Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect.Defect: yesPathology: Störk et al. (2019): Macroscopically, the cerebral white matter showed a gelatinous texture in the centrum semiovale. A mild hydrocephalus internus was noted. Histopathologically, a severe multifocal reduction of myelin formation and moderate diffuse edema without inflammation was detected leading to the diagnosis of leukodystrophy. In humans, TSEN54 variants cause a phenotype termed pontocerebellar hypoplasia, which is quite distinct from the phenotype seen in dogs. In dogs, the lesions predominantly concern the white matter of the cerebrum (Störk et al., 2019).
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 388249930 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Comparison of private homozygous protein-changing variants in whole-genome sequence data from one affected dog with "control genome sequences from 8 wolves and 213 dogs" enabled Störk et al. (2019) to identify the likely causal variant as "a missense variant affecting exon 5 of the TSEN54 gene", namely "Chr9:5,015,506C>T (CanFam 3.1 assembly) . . . XM_540434.6:c.371G>A . . . XP_540434.3:p.(Gly124A…
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.
- 2019. TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS Genet — PubMed:PMID31584937 | DOI:10.1371/journal.pgen.1008411 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:610204 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:277470 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:225753 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:608755 (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."