|
Riazuddin et al. 2010
|
G8FZ
|
V:5
|
BBS8
|
c.IVS1-2A>G/c.IVS1-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
0
|
0
|
0
|
|
0
|
|
|
0
|
Pakistani
|
|
|
Braun et al. 2014
|
NA
|
9
|
BBS5
|
|
|
|
|
M
|
20-39
|
24
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
|
Hjortshoj et al. 2009
|
JLFX
|
FO-08
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
24
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Faroe Islands
|
|
|
Hjortshoj et al. 2009
|
4LAO
|
FO-09
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
24
|
1
|
1
|
1
|
1
|
0
|
|
|
|
|
Faroe Islands
|
|
|
Castro-Sanchez et al. 2015
|
IZKQ
|
GBB4 (107)
|
BBS12
|
|
p.Gly361fs*21/p.Thr380fs*2
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
0
|
1
|
1
|
1
|
1
|
0
|
1
|
|
1
|
Spanish
|
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-1
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Deveault et al. 2011
|
1R6I
|
39
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
25
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
English/Irish
|
|
|
Deveault et al. 2011
|
W8RW
|
45
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
25
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
English/Scottish/French/Canadian
|
|
|
Deveault et al. 2011
|
0MN1
|
3
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
[]
|
M
|
20-39
|
25
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Egyptian
|
|
|
Scheidecker et al. 2015
|
3J2E
|
Case3
|
BBS10
|
|
p.Arg95Ser/p.Val707*
|
MS/cLOF
|
|
F
|
20-39
|
25
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
French
|
|
|
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
|
|
|
Braun et al. 2014
|
NA
|
17
|
BBS10
|
|
|
|
|
M
|
20-39
|
25
|
1
|
|
|
0
|
|
|
|
|
|
French
|
|
|
Castro-Sanchez et al. 2015
|
WZMT
|
GBB7 (112)‡
|
BBS1
|
|
p.Met390Arg/p.Val366Asp
|
MS/MS
|
|
M
|
20-39
|
25
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Spanish
|
|
|
Shin et al. 2015
|
50Z6
|
II:2
|
BBS7
|
c.103-1G>A/c.728G>A
|
splice/p.Cys243Tyr
|
cLOF/MS
|
|
M
|
20-39
|
26
|
1
|
1
|
0
|
1
|
0
|
1
|
1
|
0
|
1
|
Korean
|
|
|
Khan et al. 2013
|
ITYJ
|
B IV-3
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
20-39
|
26
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
Pakistani
|
|
|
Khan et al. 2013
|
38GY
|
A IV-7
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
M
|
20-39
|
26
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|
|
van Huet et al. 2013
|
KOTG
|
B-V:7
|
BBS21
|
c.156-2A>G/c.156-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
26
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
|
NA
|
|
|
Braun et al. 2014
|
NA
|
1
|
BBS4
|
|
|
|
|
F
|
20-39
|
26
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-3
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
F
|
20-39
|
27
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Deveault et al. 2011
|
R7SY
|
65
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
1
|
South African Black/European/Asian
|
|
|
Deveault et al. 2011
|
0MN1
|
2
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
[]
|
M
|
20-39
|
27
|
1
|
1
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Egyptian
|
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-02
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
|
|
1
|
|
|
0
|
USA
|
[]
|
|
Scheidecker et al. 2015
|
0FX4
|
Case4
|
BBS1
|
|
p.Met390Arg/p.Gly318Valfs*61
|
MS/cLOF
|
|
M
|
20-39
|
27
|
1
|
0
|
1
|
1
|
0
|
0
|
|
|
|
French
|
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
M
|
20-39
|
27
|
1
|
1
|
1
|
|
|
|
|
|
|
United Kingdom
|
|
|
Yamamura et al. 2017
|
QFG2
|
patient 2
|
BBS6
|
c.986-1G>A/c.986-1G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
Japanese
|
|