Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

ABSTRACT: Mice lacking the transcription factor Nrl have no rod photoreceptors and an increased number of short-wavelength-sensitive cones. Missense mutations in NRL are associated with autosomal dominant retinitis pigmentosa; however, the phenotype associated with the loss of NRL function in humans has not been reported. We identified two siblings who carried two allelic mutations: a predicted null allele (L75fs) and a missense mutation (L160P) altering a highly conserved residue in the domain involved in DNA-binding-site recognition. In vitro luciferase reporter assays demonstrated that the NRL-L160P mutant had severely reduced transcriptional activity compared with the WT NRL protein, consistent with a severe loss of function. The affected patients had night blindness since early childhood, consi

SUBMITTER: Nishiguchi KM 

PROVIDER: S-EPMC535407 | biostudies-literature | 2004 Dec

REPOSITORIES: biostudies-literature