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
|
|
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
|
|
Harville et al. 2010
|
2CSL
|
A2020-II1
|
BBS10
|
c.530A>G/c.530A>G
|
p.Tyr177Cys/p.Tyr177Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
Chaki et al. 2011
|
LTKJ
|
A1715-21
|
BBS14
|
c.5311G>T/c.5445_5448delA
|
p.Glu1771*/p.Leu1815fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
3MZE
|
F-2-2
|
BBS5
|
c.532G>A/c.532G>A
|
p.Gly178Arg/p.Gly178Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
3MZE
|
F-2-3
|
BBS5
|
c.532G>A/c.532G>A
|
p.Gly178Arg/p.Gly178Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
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
|
|
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
|
|
Janssen et al. 2011
|
RZU9
|
F523 0
|
BBS10
|
c.539G>A/c.539G>A
|
p.Gly180Glu/p.Gly180Glu
|
MS/MS
|
|
|
|
|
|
|
|
|
|
1
|
|
|
|
N. European
|
|
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
|
|
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
|
|
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
|
|
Chaki et al. 2011
|
P927
|
F89-21
|
BBS14
|
c.5515_5518del4/c.5649_5650insA
|
p.Glu1843fs*7/p.Leu1883fs*24
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
51M2
|
F15-21
|
BBS14
|
c.5649_5650insA/c.5850del1
|
p.Leu1884fs*23/p.Phe1950fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
51M2
|
F15-24
|
BBS14
|
c.5649_5650insA/c.5850del2
|
p.Leu1884fs*23/p.Phe1950fs*15
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
M'hamdi et al. 2013
|
FHWS
|
BBS-F07-A
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
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
|
|
Alazami et al. 2012
|
UKL9
|
JS_F11
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
F
|
|
|
1
|
|
0
|
1
|
|
0
|
|
0
|
1
|
Saudi Arabian
|
|
Alazami et al. 2012
|
FLZL
|
JS_F12
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
F
|
|
|
|
|
1
|
1
|
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
Chaki et al. 2011
|
FMNC
|
A1188-21
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
TMOJ
|
F394-27
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
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
|
|
Chaki et al. 2011
|
Y3MD
|
F944-31
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
Y3MD
|
F944-32
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|