A strategy for molecular diagnosis and search for new genes/loci in autosomal dominant retinitis pigmentosa
Acta Ophthalmologica, 08/21/2012
Manes G et al. – The prevalence of the genes was similar to that of the literature for most genes (e.g. RHO with 16 %), but were unexpected for others (e.g. NR2E3 with 3.9 %). The WES approach allowed us to identify a causative gene in 58.3 % of a population previously screened by direct sequencing approach. The 5 remaining families, negative with WES screen, are potentially carrying a mutation in one or more new adRP genes although an intronic mutation cannot be excluded. These 5 families are under active investigation.