Auditory-pigmentary syndrome, GRID1-related — short stature–auditory depigmentation syndrome; coat colour white
Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify "a likely pathogenic missense variant in GRID1 (XP_024842694.1:p.Pro489His) [omia.variant:1831] in [a Simmental animal] with short stature-auditory depigmentation syndrome".
OMIA ID:3002Inheritance: 5Characterised: YesYear: 2025
Drögemüller et al. (2011) identified a likely causal variant in Tyrolean Grey cattle as the synonymous c.2229C>T SNP, which "is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the pr...
OMIA ID:1106Inheritance: 5Characterised: YesYear: 2011
