Table 2 of Sharon, Mol Vis 2015; 21:783-792.


Table 2. Disease-causing mutations identified in RP patients from the vicinity of Jerusalem.

Gene Name Mutation name # of Families(# of alleles) % of the totalnumber of alleles Origin
ADAM9 c.1087T>A (p.C363S) 2 (4) 3.4% Iraqi Jewish
BBS1 c.479G>A (p.R160Q) 1 (2) 1.7% Arab-Muslim
CDHR1 c.1381C>T (p.Gln461*)

c.2087_2090del4 (p.D696Afs*3)
1 (2)

1 (2)
1.7%

1.7%
Arab-Muslim

Arab-Muslim
CNGB1 c.2284C>T (p.R762C) 2 (4) 3.4% Buchara Jewish
CRB1 c.1148G>A (p.C383Y)

c.2498G>A (p.G833D)

c.3306G>A (p.G1103R)
1 (2)

2 (4)

2 (4)
1.7%

3.4%

3.4%
Kurdish Jewish

Iraqi Jewish

Arab-Muslim
c2orf71 c.2950C>T (p.R984*)

c.3289C>T (p.Q1097*)
1 (1)

1 (1)
0.8%

0.8%
Turkey Jewish

Iranian Jewish
C8orf37 c.529C>T (p.R177W) 1 (2) 1.7% Arab-Muslim
DHDDS c.124A>G (p.K42E) 8 (16) 13.8% Ashkenazi Jewish
EYS c.403delA,c.406G>T,
c.del410_424 (p.T135Lfs*25)

c.1211_1212insA (p.N404Kfs*2)

c.8218_8219delCA (p.H2740Yfs*27)

c.9286_95del10 (p.V3096Lfs*28)
5 (9)

1 (2)

1 (1)

1 (2)
7.7%

1.7%

0.8%

1.7%
North-African Jewish

North-African Jewish

Iraqi Jewish

Ashkenazi Jewish
FAM161A c.1355_6delCA (p.T452Sfs*3)

c.1567C>T (p.R523*)
6 (12)

1 (2)
10.3%

1.7%
North-African Jewish

Syrian Jewish
MAK c.1296_7ins353 (Alu insertion) 2 (4) 3.4% Ashkenazi Jewish
NR2E3 c.119–2A>C (IVS1–2A>C)

c.932G>A (p.R311Q)
c.747+1G>C (IVS5+1G>C)

c.194–202del9bp (p.N65-C67del)
2 (2)

2 (2)

1 (1)

1 (1)
1.7%

1.7%

0.8%

0.8%
Arab-Muslim

Ashkenazi Jewish

Ashkenazi Jewish

Ashkenazi Jewish
PDE6A c.1960C>T (p.Q654*) 1 (2) 1.7% Arab-Muslim
RDH12 c.295C>A (p.L99I)

c.377C>T (p.A126V)

c.658G>A (IVS5+1G>A)

c.740T>C (p.L274P)
2 (4)

2 (4)

1 (2)

1 (2)
3.4%

1.7%

1.7%

3.4%
North-African Jewish

Arab-Muslim

Arab-Muslim

Arab-Muslim
RPGR c.259G>T (p.E87*)

c.592G>A (p.G198R)

c.2964_5delGG (p.G998Gfs*88)

c.2797delG (p.E943Kfs*155)

c.2405_6delAG (p.E802Gfs*31)
1 (1)

2 (2)

1 (1)

1 (1)

1 (1)
0.8%

1.7%

0.8%

0.8%

0.8%
Bedouin

Arab-Muslim

Ashkenazi Jewish

Ashkenazi Jewish

Ashkenazi Jewish
RP2 c.530_531delTT (p.F177Yfs*40) 1 (1) 0.8% Ashkenazi Jewish
SPATA7 c.288T>A (p.C96*) 1 (2) 1.7% Arab-Muslim
USH1C c.1220delG (p.G407Efs*56) 3 (6) 5.2% Yemenite Jewish
USH2A c.377delG (p.S126Ifs*18)

c.3959C>T (p.P1320L)

c.6937G>T (p.G2313C)

c.12052G>A (p.A4018T)
1 (1)

1 (1)

1 (1)

1 (1)
0.8%

0.8%

0.8%

0.8%
Arab-Muslim

Arab-Muslim

Arab-Muslim

Arab-Muslim