Table 1 of
Gire, Mol Vis 2007;
13:1970-1975.Table 1 of
Gire, Mol Vis 2007;
13:1970-1975.
Table 1. High frequency mutations in autosomal dominant retinitis pigmentosa
Fifteen different common mutations in seven genes account for almost 30% of cases of autosomal dominant retinitis pigmentosa (adRP) in American or Western European populations. The recently described NR2E3 mutation Gly56Arg accounts for approximately 1.5% of autosomal dominant retinitis pigmentosa.
Frequency in
Gene Mutation adRP (%)
------ ----------------- -----------
IMPDH1 Asp226Asn 2.5
PRPF3 Thr494Met 1
PRPF8 Glu2331fs/ter2358 1
RDS IVS2+3 AT 2
Pro216Leu 1
Gly266Asp 1
RHO Pro23His 10
Gly106Trp 1
Arg135Leu 1.5
Arg135Trp 2
Asp190Asn 1
Pro347Leu 1
RP1 Arg677ter 1.5
Leu762fs/ter777 1.5
NR2E3 Glu56Arg 1.5
Total 29.5
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