Fattahi et al. 2014
|
O03G
|
40302
|
BBS7
|
c.1342_1346delCAGGC/c.1443T>A
|
p.Gln448Argfs*13/p.Cys481*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
Iranian
|
|
Maria et al. 2016
|
B9HM
|
F02 IV:2
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
M
|
40+
|
45
|
1
|
0
|
0
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
Yang et al. 2008
|
TD84
|
IV:2
|
BBS7
|
c.1666A>G/c.1666A>G
|
p.Ser556Arg/p.Ser556Arg
|
MS/MS
|
|
M
|
20-39
|
37
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Chinese
|
|
Bennouna-Greene et al. 2011
|
2FSK
|
04.01.01
|
BBS10
|
|
p.Arg49Trp/p.Leu414Ser
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
Fattahi et al. 2014
|
4CJ1
|
34792
|
BBS9
|
c.1789+1G>A/c.1789+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
1
|
|
|
Iranian
|
|
Maria et al. 2016
|
B9HM
|
F02 IV:I
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
M
|
40+
|
47
|
1
|
0
|
1
|
1
|
1
|
1
|
|
1
|
|
Pakistani
|
|
Yang et al. 2008
|
TD84
|
IV:4
|
BBS7
|
c.1666A>G/c.1666A>G
|
p.Ser556Arg/p.Ser556Arg
|
MS/MS
|
|
M
|
20-39
|
32
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Chinese
|
|
Fattahi et al. 2014
|
V7JY
|
41931
|
BBS9
|
c.263+1G>A/c.263+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Iranian
|
|
Maria et al. 2016
|
MOAU
|
F03 IV:2
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Pakistani
|
|
Yoon et al. 2014
|
J447
|
brother
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
0-9
|
6,5
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
Korean
|
|
Bennouna-Greene et al. 2011
|
NK6A
|
1.10.19
|
BBS10
|
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
Fedick et al. 2013
|
6RJ4
|
1
|
BBS2
|
c.311A>C/c.311A>C
|
p.Asp104Ala/p.Asp104Ala
|
MS/MS
|
|
M
|
|
|
1
|
|
1
|
|
|
|
|
|
|
Ashkenazi Jewish
|
|
Maria et al. 2016
|
AHHU
|
F04 IV:2
|
BBS9
|
c.1789C>T/c.1789C>T
|
p.Gln597*/p.Gln597*
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
Pakistani
|
|
Yoon et al. 2014
|
J447
|
case
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
10-19
|
17,5
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Korean
|
|
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
|
|
Fedick et al. 2013
|
2S6X
|
2
|
BBS2
|
c.311A>C/c.311A>C
|
p.Asp104Ala/p.Asp104Ala
|
MS/MS
|
|
F
|
|
|
1
|
|
1
|
|
|
|
|
|
|
Ashkenazi Jewish
|
|
Marion et al. 2012
|
CPKG
|
BBE93
|
BBS17
|
c.402-406d/c.402-406d
|
p.Pro136Thrfs*/p.Pro136Thrfs*
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
Algerian
|
|
Young et al. 1998
|
VNDY
|
14
|
BBS3
|
|
|
|
|
M
|
40+
|
51
|
1
|
0
|
1
|
0
|
|
1
|
|
|
|
Newfoundland
|
|
Fedick et al. 2013
|
PZIT
|
3
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
M'hamdi et al. 2013
|
VK14
|
BBS-F01-A
|
BBS1
|
c.1473+4A>G/c.1473+4A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
0-9
|
5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
Bennouna-Greene et al. 2011
|
JF1V
|
06.03.09
|
BBS12
|
|
p.Pro195Leu/p.Ile346Thr
|
MS/MS
|
|
M
|
20-39
|
37
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
Fedick et al. 2013
|
PZIT
|
4
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-A
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
21
|
1
|
1
|
0
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
Young et al. 1998
|
VNDY
|
22
|
BBS3
|
|
|
|
|
M
|
20-39
|
36
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Newfoundland
|
|
Bennouna-Greene et al. 2011
|
9SFS
|
1.13.22
|
BBS12
|
|
p.Tyr257fs*10/p.Tyr257fs*10
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|