Billingsley et al. 2010
|
F7X3
|
2x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
0
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Egyptian
|
|
Braun et al. 2014
|
NA
|
3
|
BBS1
|
|
|
|
|
M
|
20-39
|
24
|
1
|
|
|
1
|
|
|
|
|
|
French
|
|
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
|
|
Branfield Day et al. 2015
|
NA
|
12
|
BBS9
|
|
|
|
|
F
|
20-39
|
23,8
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Kerr et al. 2015
|
03JU
|
1
|
BBS1
|
|
p.Ile330Thr/p.Arg483*
|
MS/cLOF
|
[]
|
F
|
20-39
|
23
|
1
|
1
|
1
|
1!
|
0
|
1
|
|
1
|
1
|
Polish
|
[]
|
Deveault et al. 2011
|
UHVP
|
123
|
BBS2
|
|
p.Lys39Lys (splice)/p.Arg324*
|
cLOF/cLOF
|
|
M
|
20-39
|
23
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
Caucasian
|
|
Laurier et al. 2006
|
00OK
|
D4
|
BBS2
|
|
p.Gly139Val/p.Gly139Val
|
MS/MS
|
|
F
|
20-39
|
23
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Lebanese
|
|
Bennouna-Greene et al. 2011
|
BJT1
|
01.04.05
|
BBS12
|
|
p.Arg355*/p.Arg355*
|
cLOF/cLOF
|
|
M
|
20-39
|
23
|
0
|
1
|
|
1
|
|
|
|
|
|
French
|
|
Branfield Day et al. 2015
|
NA
|
15
|
BBS1
|
|
|
|
|
F
|
20-39
|
23
|
|
1
|
|
|
|
1
|
|
0
|
|
NA
|
|
Braun et al. 2014
|
NA
|
5
|
BBS1
|
|
|
|
|
M
|
20-39
|
23
|
0
|
|
|
1
|
|
|
|
|
|
French
|
|
Hjortshoj et al. 2009
|
Q90P
|
FO-01
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
20-39
|
23
|
1
|
1
|
0
|
|
|
|
|
|
|
Faroe Islands
|
|
Branfield Day et al. 2015
|
NA
|
20
|
BBS6
|
|
|
|
|
M
|
20-39
|
22,4
|
|
1
|
|
|
|
0
|
|
0
|
|
Portugese
|
|
Branfield Day et al. 2015
|
NA
|
17
|
BBS10
|
|
|
|
|
F
|
20-39
|
22,3
|
|
1
|
|
|
|
1
|
|
1
|
|
British/Irish
|
|
Branfield Day et al. 2015
|
NA
|
19
|
BBS6
|
|
|
|
|
M
|
20-39
|
22,2
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Abu Safieh et al. 2010
|
W01J
|
KFSH-FD001-4
|
BBS3
|
c.266C>T/c.266C>T
|
p.Ala89Val/p.Ala89Val
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Kerr et al. 2015
|
IC89
|
6
|
BBS10
|
|
p.Cys91Leufs*5/p.Glu104Lysfs*7
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1!
|
0
|
1
|
|
1!
|
1
|
English/Irish/Scottish
|
[]
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-05
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
22
|
1
|
1
|
0
|
|
1
|
1
|
|
|
0
|
USA
|
[]
|
Deveault et al. 2011
|
75UO
|
82
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
[]
|
M
|
20-39
|
22
|
1
|
1
|
1
|
|
|
1
|
1
|
|
1
|
Denea
|
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.22
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
French
|
|
Deveault et al. 2011
|
ERRX
|
35
|
BBS9
|
|
p.Thr111Leufs*22/p.Thr111Leufs*22
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
1
|
Italian
|
|
Laurier et al. 2006
|
00OK
|
B4
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Lebanese
|
|