|
Lindstrand et al. 2016
|
FQTJ
|
DM034-004
|
BBS3
|
|
deletion of exons 4-9/deletion of exons 4-9
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
0
|
|
|
|
1
|
0
|
NA
|
|
|
van Huet et al. 2013
|
F1AK
|
C-II:1
|
BBS21
|
c.529C>T/c.529C>T
|
p.Arg177Trp/p.Arg177Trp
|
MS/MS
|
|
M
|
20-39
|
36
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
Bennouna-Greene et al. 2011
|
NX9Z
|
01.02.03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
53
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
van Huet et al. 2013
|
F1AK
|
C-II:2
|
BBS21
|
c.529C>T/c.529C>T
|
p.Arg177Trp/p.Arg177Trp
|
MS/MS
|
|
M
|
20-39
|
30
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
Bennouna-Greene et al. 2011
|
GIZN
|
01.03.04
|
BBS1
|
|
p.Met390Arg/p.Glu384*
|
MS/cLOF
|
|
F
|
20-39
|
28
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
KQKK
|
35201
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Iranian
|
|
|
van Huet et al. 2013
|
DRB7
|
D-IV:1
|
BBS21
|
c.545A>G/c.545A>G
|
p.Gln182Arg/p.Gln182Arg
|
MS/MS
|
|
F
|
20-39
|
38
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
Bennouna-Greene et al. 2011
|
I8TW
|
01.07.10
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
21
|
0
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
GEMF
|
36000
|
BBS12
|
c.2019del/c.2019del
|
p.Trp673Cysfs*7/p.Trp673Cysfs*7
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Iranian
|
|
|
van Huet et al. 2013
|
DRB7
|
D-IV:3
|
BBS21
|
c.545A>G/c.545A>G
|
p.Gln182Arg/p.Gln182Arg
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
Bennouna-Greene et al. 2011
|
I8TW
|
01.07.15
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
18
|
0
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fattahi et al. 2014
|
LJ5D
|
37709
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
0
|
|
1
|
|
|
|
Iranian
|
|
|
van Huet et al. 2013
|
DRB7
|
D-IV:4
|
BBS21
|
c.545A>G/c.545A>G
|
p.Gln182Arg/p.Gln182Arg
|
MS/MS
|
|
F
|
40+
|
40
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
Bennouna-Greene et al. 2011
|
TFG2
|
05.02.07
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
Q3SV
|
06.01.01
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
33
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.04
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Maria et al. 2016
|
AOD6
|
F01 IV:2
|
BBS3
|
c.534A>G/c.534A>G
|
p.Gln178Gln (splice)/p.Gln178Gln (splice)
|
cLOF/cLOF
|
|
M
|
20-39
|
32
|
1
|
|
1
|
0
|
1
|
1
|
|
|
|
Pakistani
|
|
|
Bennouna-Greene et al. 2011
|
K7Y0
|
1.4.c
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
17
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Maria et al. 2016
|
AOD6
|
F01 IV:3
|
BBS3
|
c.534A>G/c.534A>G
|
p.Gln178Gln (splice)/p.Gln178Gln (splice)
|
cLOF/cLOF
|
|
M
|
40+
|
40
|
1
|
|
1
|
0
|
1
|
0
|
|
1
|
|
Pakistani
|
|
|
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
|
|
|
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
|
|
|
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
|
|