Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

The localization and identification of the photoreceptor cell-specific nuclear gene NR2E3 as a novel disease locus and gene for 'autosomal dominant retinitis pigmentosa' (adRP) is described. A different pathogenetic mechanism is proposed for these distinct dominant and recessive phenotypes, which is attributed to the dual key role of NR2E3 in the regulation-specific genes during rod development and maintenance.