Kerr et al. 2015
|
KV2V
|
2
|
BBS1
|
|
p.Met242Argfs*83/p.Met390Arg
|
cLOF/MS
|
[]
|
F
|
20-39
|
29
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
English/Scottish/German/Iceland
|
[]
|
Shaheen et al. 2016
|
KV8M
|
F-34-58
|
BBS4
|
c.1226delG/c.1226delG
|
p.Ser409Thrfs*60/p.Ser409Thrfs*60
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
|
|
|
|
|
Saudi Arabian
|
|
Innes et al. 2010
|
KVYU
|
P1
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
Hutterite
|
|
Chaki et al. 2011
|
KYJJ
|
F700-24
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
KYJJ
|
F700-26
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Bujakowska et al. 2015
|
L077
|
Family 2, II.1
|
BBS20
|
c.4815T>G/c.4815T>G
|
p.Asp1605Glu/p.Asp1605Glu
|
MS/MS
|
|
|
20-39
|
33
|
1
|
0
|
0
|
|
|
0
|
|
|
|
White European
|
|
Otto et al. 2010
|
L0I5
|
FI.2_21
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Otto et al. 2010
|
L0I5
|
FI.2_22
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Otto et al. 2010
|
L0I5
|
FI.2_23
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Otto et al. 2010
|
L0I5
|
FI.2_24
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
Katsanis et al. 2000
|
L1JD
|
AR301
|
BBS6
|
|
p.Tyr58Ala/p.Tyr58Ala
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
0
|
|
|
|
European/American
|
|
Bennouna-Greene et al. 2011
|
L1UE
|
01.06.06
|
BBS10
|
|
p.Cys91fs*5/p.Leu348fs*13
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Abu-Safieh et al. 2012
|
L4G5
|
BBS-F004-A
|
BBS3
|
c.480-1700_535+2392del/c.480-1700_535+2392del
|
p.Cys160*/p.Cys160*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
L4G5
|
BBS-F004-B
|
BBS3
|
c.480-1700_535+2392del/c.480-1700_535+2392del
|
p.Cys160*/p.Cys160*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
L4G5
|
BBS-F004-C
|
BBS3
|
c.480-1700_535+2392del/c.480-1700_535+2392del
|
p.Cys160*/p.Cys160*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
L4G5
|
BBS-F004-D
|
BBS3
|
c.480-1700_535+2392del/c.480-1700_535+2392del
|
p.Cys160*/p.Cys160*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
L4G5
|
BBS-F004-E
|
BBS3
|
c.480-1700_535+2392del/c.480-1700_535+2392del
|
p.Cys160*/p.Cys160*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Kamme et al. 2016
|
L4YK
|
II-1
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
1
|
0
|
|
|
|
|
|
|
Swedish
|
|
Kamme et al. 2016
|
L4YK
|
II-2
|
BBS5
|
c.790G>A/c.790G>A
|
p.Gly264Arg/p.Gly264Arg
|
MS/MS
|
|
F
|
20-39
|
28
|
1
|
1
|
0
|
|
1
|
|
|
|
|
Swedish
|
|
Bennouna-Greene et al. 2011
|
LCQ5
|
1.12.21
|
BBS10
|
|
p.Cys91fs*5/p.Tyr321*
|
cLOF/cLOF
|
|
M
|
20-39
|
30
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Castro-Sanchez et al. 2017
|
LDBP
|
Case 2
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Spanish
|
|
Schaefer et al. 2011(b)
|
LDHB
|
IV.3
|
BBS8
|
c.459G>A/c.459G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-A
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-B
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Abu-Safieh et al. 2012
|
LEPV
|
BBS-arRP-F026-C
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|