Purpose: Mutations in the orphan nuclear receptor gene NR2E3 have been found to cause both recessive and dominant retinopathies. The purpose of this study was to determine the prevalence of the recently described Gly56Arg mutation in a well characterized cohort of families with autosomal dominant retinitis pigmentosa (adRP).
Methods: A cohort of 215 families with adRP which have already been screened for mutations in 13 of the other known adRP genes was used to determine the frequency of the Gly56Arg mutation. The 92 families without a disease-causing mutation in a known gene were tested for the presence of the Gly56Arg mutation using direct DNA sequencing. An additional set of 100 normal controls (200 chromosomes) was also screened by DNA sequencing.
Results: The Gly56Arg mutation was found in three of the 92 adRP families studied and was not found in unaffected control samples.
Conclusions: The Gly56Arg mutation in NR2E3 accounts for approximately 1%-2% of adRP, making it one of the more common single mutations in adRP.