|
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
|
|
|
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
|
|
|
Lindstrand et al. 2016
|
1WD9
|
AR634-04
|
BBS7
|
|
deletion of exons 16-17/p.Gln293Pro
|
cLOF/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
NA
|
|
|
White et al. 2006
|
TGDP
|
Patient B
|
BBS10
|
c.995_999delAAGA/c.995_999delAAGA
|
p.Gln242fs*17/p.Gln242fs*17
|
cLOF/cLOF
|
|
M
|
10-19
|
13
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
|
1
|
Omani
|
|
|
Maria et al. 2016
|
M2A5
|
F05 V:2
|
BBS12
|
c.2014G>A/c.2014G>A
|
p.Ala672Thr/p.Ala672Thr
|
MS/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
|
Maria et al. 2016
|
M2A5
|
F05 V:4
|
BBS12
|
c.2014G>A/c.2014G>A
|
p.Ala672Thr/p.Ala672Thr
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
1
|
0
|
|
1
|
0
|
|
|
|
Pakistani
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
M'hamdi et al. 2013
|
H2VL
|
BBS-F11-A
|
BBS1
|
c.448C>T/c.448C>T
|
p.Arg146*/p.Arg146*
|
cLOF/cLOF
|
|
F
|
20-39
|
32
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Tunisian
|
|
|
M'hamdi et al. 2013
|
H2VL
|
BBS-F11-B
|
BBS1
|
c.448C>T/c.448C>T
|
p.Arg146*/p.Arg146*
|
cLOF/cLOF
|
|
F
|
40+
|
40
|
1
|
1
|
0
|
1
|
0
|
|
|
|
|
Tunisian
|
|
|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-A
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
14
|
0
|
0
|
0
|
1
|
0
|
1
|
|
|
|
Tunisian
|
|
|
Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-B
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
|
Gerth et al. 2008
|
OZTA
|
2621
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
0
|
|
Canada
|
|
|
Ghadami et al. 2000
|
YCV0
|
III-10
|
BBS3
|
|
|
|
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
0
|
0
|
|
|
|
Iranian
|
|
|
Ghadami et al. 2000
|
YCV0
|
III-9
|
BBS3
|
|
|
|
|
M
|
|
|
1
|
1
|
0
|
|
|
|
|
|
|
Iranian
|
|
|
Billingsley et al. 2012
|
MESS
|
40
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
[]
|
|
10-19
|
16
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
1
|
East Indian
|
|
|
Billingsley et al. 2012
|
MESS
|
59
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
1
|
0
|
1!
|
0
|
1
|
1
|
1
|
1
|
East Indian
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II1(AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
0
|
0
|
1
|
0
|
|
|
1
|
Europe
|
|
|
Pereiro et al. 2010
|
0KMP
|
M446 II.1
|
BBS3
|
|
p.Gly2*/p.Gly2*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Caucasian
|
|
|
Phelps et al. 2017
|
MDPS
|
UW013-3
|
BBS14
|
|
|
|
[]
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|
|
Phelps et al. 2017
|
MDPS
|
UW013-4
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
0
|
|
0
|
|
European
|
|