GENE

Proportions of cases caused by various RP genes based on data from our group and other groups (May, 2002)


GENE	# of unrelated patients surveyed	# with mutation	% of all RP patients
BBS2 (Katsanis et al., 2001) BBS4 (Katsanis et al., 2002) BBS6 (MKKS) (Beales et al., 2001; Slavotinek et al., 2000; Katsanis et al., 2000; Slavotinek et al., 2001)	163 with BBS 177 with BBS 251 with BBS	19* (11.7%) 5* (2.8%) 19* (7.6%)	0.6% 0.1% 0.4%
CNGA1 (alpha subunit of the rod cGMP-gated cation channel) (Dryja et al., 1995)	173 with ARRP 94 with ADRP	3 (1.7%) 0 (0%)	0.6%
CRX (Sohocki et al., 2001)	206 with ADRP 138 with ARRP/ Isolate RP	1 (0.5%) 0 (0%)	0.2% 0%
FSCN2 (Wada et al., 2001)	120 with ADRP 200 with ARRP 100 with Simplex RP	4 (3.3%) 0 (0%) 0 (0%)	1.3% 0% 0%
NRL ( Martinez-Gimeno et al., 2001; DeAngelis et al., 2002)	319 with ADRP	5 (1.6%)	0.6%
PDE6A (alpha subunit of rod cGMP-phosphodiesterase) (Dryja et al., 1999)	164 with ARRP	6 (3-4%)	1.2%
PDE6B (beta subunit of rod cGMP-phosphodiesterase) (McLaughlin et al., 1995)	92 with ARRP	4 (4.3%)	1.5%
PRPF31 (Vithana et al., 2001)	50 with SporadicRP	3 (6.0%)
RDS/Peripherin (Ekstrom et al., 1998; Dryja et al., 1997; Kucinskas et al., 1999)	206 with ADRP 92 with ARRP	15(5%) (combines ARDP+ARRP+Digenic)	1.9%
RGR (Morimura et al., 1999)	182 with ADRP 182 with ARRP 383 with Simplex RP	1 (0.5%) 1 (0.5%) 0 (0%)	0.2% 0.2% 0%
RHO (rhodopsin) (Sung et al., 1991; Inglehearn et al., 1992; Sheffield et al., 1991)	234 with ADRP	59 (25%)	10.3%
ROM1 (Dryja et al, 1997)	173 with ADRP 142 with ARRP	4 (0.01%)(combines ADRP+ARRP+Digenic)	0% (overlaps with RDS)
RP1 (Payne et al., 2000; Bowne et al., 1999)	322 with ADRP	24 (7.5%)	3.0%
RP2 (Hardcastle et al., 1999; Schwahn et al., 1998;Sharon et al., 2000; Breuer et al., 2002)	273 with XLRP	25 (10.1%)	1.0%
RPE65 (Morimura et al., 1998)	148 with ARRP 14 with IsolateRP	3 (2.0%) 0 (0%)	0.7% 0%
RPGR including ORF15 (Vervoort et al., 2000)	47 with XLRP	34 (72.3%)	7.2%
SAG Arrestin (Sippel et al., 1998)	177 with ADRP 85 with ARRP	0 (0%) 0 (0%)	0% 0%
TULP1 (Hagstrom et al., 1998; Gu et al., 1998)	707 (ARRP/simplex)	4 (0.6%)	0.2%
USH1B (MYO7A) (Bharadwaj et al., 2000; Janecke et al., 1999; Adato et al., 1997) USH1D (Bolz et al., 2001)	128 with Usher type I 26 with Usher type I	29 (22.7%) 1 (3.8%)	0.9% 0.1%
USH2A (usherin) (Leroy et al., 2001; Dreyer et al., 2000)	67 with Usher type II	21 (31.3%)	1.6%

Notes to table:

Included in the table are only genes that were completely screened (i.e. all coding exons of the gene) and for which a list of patients by the different diagnostic categories including hereditary pattern was included in the publication. The numbers of patients screened were not corrected for mutations in genes excluded prior to the study.

To calculate the percentage of all RP caused by each gene, we assumed the following breakdown of RP cases: ADRP = 40%; nonsyndromic ARRP = 35%; syndromic ARRP: Usher =10% (within Usher, typeI 38%, type II 54%, type III 8%), Bardet-Biedl = 5%; X-linked RP = 10%.

* All the mutations found were assumed to be pathogenic

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