The discovery of the two novel likely pathogenic variants p.Gly51Val and p.Gly464Arg could broaden our knowledge about the genetics of CSNB and provide insights into the structure and function of the GRM6 protein.
The discovery of the two novel likely pathogenic variants p.Gly51Val and p.Gly464Arg could broaden our knowledge about the genetics of CSNB and provide insights into the structure and function of the GRM6 protein.
The genetic model analysis found that GRM6-rs11746675 and GRM6-rs2067011 were suggestively associated with high myopia in the recessive model (OR=0.54, P=0.004; OR=0.52, P=0.003; respectively).
Haplotype GAT for GRM6 markers rs2067011-rs2645339-rs762724 showed significance (P=0.0239), but such association did not remain significant after multiple testing corrections.ConclusionsOur data suggested that genetic variants in GRM6 are associated with high myopia.
Haplotype GAT for GRM6 markers rs2067011-rs2645339-rs762724 showed significance (P=0.0239), but such association did not remain significant after multiple testing corrections.ConclusionsOur data suggested that genetic variants in GRM6 are associated with high myopia.
Haplotype GAT for GRM6 markers rs2067011-rs2645339-rs762724 showed significance (P=0.0239), but such association did not remain significant after multiple testing corrections.ConclusionsOur data suggested that genetic variants in GRM6 are associated with high myopia.
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.