|
Bennouna-Greene et al. 2011
|
TFG2
|
05.02.07
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
VO8X
|
34754
|
BBS2
|
c.1003C>T/c.1003C>T
|
p.Gln335*/p.Gln335*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Iranian
|
|
|
Lindstrand et al. 2016
|
1WD9
|
AR634-03
|
BBS7
|
|
deletion of exons 16-17/p.Gln293Pro
|
cLOF/MS
|
|
F
|
10-19
|
17
|
1
|
1
|
0
|
1
|
|
0
|
|
|
1
|
NA
|
|
|
Bennouna-Greene et al. 2011
|
Q3SV
|
06.01.01
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
33
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
2X8V
|
34885
|
BBS2
|
c.471G>C/c.471G>C
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.04
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
Y3OD
|
38498
|
BBS2
|
c.256_278dup23/c.256_278dup23
|
p.Val94Serfs*8/p.Val94Serfs*8
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Iranian
|
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.05
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
21
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
XI3Q
|
1.16.25
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
38
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
65UG
|
34881
|
BBS4
|
c.829G>A/c.829G>A
|
p.Gly277Arg/p.Gly277Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|
|
Yamamura et al. 2017
|
V9I3
|
patient 1
|
BBS16
|
c.845_848delTTTG/c.845_848delTTTG
|
fs/fs
|
cLOF/cLOF
|
|
F
|
0-9
|
3
|
1
|
0
|
0
|
1
|
|
1
|
|
|
|
Japanese
|
|
|
Bennouna-Greene et al. 2011
|
K7Y0
|
1.4.c
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
17
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Bennouna-Greene et al. 2011
|
2FSK
|
04.01.01
|
BBS10
|
|
p.Arg49Trp/p.Leu414Ser
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
OURF
|
04.02.02
|
BBS10
|
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Young et al. 1998
|
VNDY
|
14
|
BBS3
|
|
|
|
|
M
|
40+
|
51
|
1
|
0
|
1
|
0
|
|
1
|
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
BJT1
|
01.04.05
|
BBS12
|
|
p.Arg355*/p.Arg355*
|
cLOF/cLOF
|
|
M
|
20-39
|
23
|
0
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
Fedick et al. 2013
|
PZIT
|
3
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
Young et al. 1998
|
VNDY
|
15
|
BBS3
|
|
|
|
|
F
|
40+
|
54
|
|
1
|
1
|
|
|
1
|
|
|
|
Newfoundland
|
|