Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

@inproceedings{Gardner2014ThreeDC,
  title={Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants},
  author={Jessica C. Gardner and Gerald Liew and Y. Quan and Burcu Ermetal and Hisao Ueyama and Alice Davidson and Nele Schwarz and Naheed Kanuga and Ravinder Chana and Eamonn R Maher and Andrew R. Webster and G. E. Holder and Anthony George Robson and Michael E Cheetham and Jan Liebelt and Jonathan B Ruddle and Anthony T Moore and Michel Michaelides and Alison J. Hardcastle},
  booktitle={Human mutation},
  year={2014}
}
Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region (LCR); missense mutation (p.Cys203Arg) in an L-/M-hybrid gene; and exon 3 single-nucleotide polymorphism (SNP) interchange haplotypes in an otherwise normal gene array. Moderate-to-high… CONTINUE READING