Our results support the notion that gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa while loss-of-function NRL mutations lead to autosomal recessive retinitis pigmentosa.
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.
To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP).
To determine the characteristic features of the autosomal dominant retinitis pigmentosa phenotype associated with the NRLSer50Thr mutation in affected individuals from 4 related families.
Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified.
HphI restriction analysis followed by direct sequencing of the amplified NRL exon 2 product demonstrated the presence of the NRLS50T sequence change in three adRP families.