Categories: Nervous system phene , Behaviour / neurological phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 121200 (trait) , 121201 (trait)

Mendelian trait/disorder: unknown

Disease-related: yes

Species-specific symbol: JIE

Mapping: Ciosek et al. (2023) "conducted a GWAS in 60 cases of JIE and 120 genetically matched controls, identifying loci suggesting JIE is not caused by a single locus."

Markers: Polani et al. (2022, initially reported as 2018): "Initial whole genome comparisons between a small cohort of nine diagnosed foals (cases [diagnosed primarily on clinical grounds]) and 27 controls from other horse breeds identified variants uniquely shared amongst the case cohort. Further validation via targeted resequencing of these variants, that pertain to non-intergenic regions, on additional eleven case individuals revealed a single 19bp deletion coupled with a triple-C insertion (Δ19InsCCC) within the TRIM39-RPP21 gene readthrough that was uniquely shared across all case individuals, and absent from three additional Arabian controls." Given the limitations of these data, Polani et al. (2022) concluded that "Further evaluation of the sensitivity and specificity of the Δ19InsCCC allele within additional cohorts of the Arabian horse is warranted in order to validate its credibility as a marker for JIE". Rivas et al. (2019) provided further evaluation by genotyping (via sequencing) the Δ19InsCCC variant in "nine EEG-phenotyped affected and nine unaffected Egyptian Arabian horses". The results showed that "There was no significant genotypic (P = 1.00) or allelic (P = 0.31) association with the ∆19InsCCC variant and JIE status [as definitively determined by EEG]." Rivas et al. (2019) concluded that "The previously reported markers in TRIM39-RPPB1 are therefore not associated with JIE in well-phenotyped samples."

Breed: Arab (Horse) (VBO_0000905).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).