|
Yoon et al. 2014
|
J447
|
case
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
10-19
|
17,5
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Korean
|
|
|
Bennouna-Greene et al. 2011
|
LCQ5
|
1.12.21
|
BBS10
|
|
p.Cys91fs*5/p.Tyr321*
|
cLOF/cLOF
|
|
M
|
20-39
|
30
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Fedick et al. 2013
|
2S6X
|
2
|
BBS2
|
c.311A>C/c.311A>C
|
p.Asp104Ala/p.Asp104Ala
|
MS/MS
|
|
F
|
|
|
1
|
|
1
|
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
Marion et al. 2012
|
CPKG
|
BBE93
|
BBS17
|
c.402-406d/c.402-406d
|
p.Pro136Thrfs*/p.Pro136Thrfs*
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
Algerian
|
|
|
Young et al. 1998
|
VNDY
|
14
|
BBS3
|
|
|
|
|
M
|
40+
|
51
|
1
|
0
|
1
|
0
|
|
1
|
|
|
|
Newfoundland
|
|
|
Fedick et al. 2013
|
PZIT
|
3
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
M'hamdi et al. 2013
|
VK14
|
BBS-F01-A
|
BBS1
|
c.1473+4A>G/c.1473+4A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
0-9
|
5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
|
Bennouna-Greene et al. 2011
|
JF1V
|
06.03.09
|
BBS12
|
|
p.Pro195Leu/p.Ile346Thr
|
MS/MS
|
|
M
|
20-39
|
37
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
Fedick et al. 2013
|
PZIT
|
4
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
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
|
|
|
Young et al. 1998
|
VNDY
|
22
|
BBS3
|
|
|
|
|
M
|
20-39
|
36
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
9SFS
|
1.13.22
|
BBS12
|
|
p.Tyr257fs*10/p.Tyr257fs*10
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-B
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Tunisian
|
|
|
Bennouna-Greene et al. 2011
|
4HTC
|
01.05.07
|
BBS2
|
|
p.Pro134fs*67/p.Leu209fs*21
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Young et al. 1998
|
VNDY
|
24
|
BBS3
|
|
|
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
0
|
|
1
|
1
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
4HRZ
|
1.11.20
|
BBS6
|
c.429delCT/c.433delAG
|
p.Asp143fs*6/p.Ser479*
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
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
|
|
|
Bennouna-Greene et al. 2011
|
GRKW
|
01.08.12
|
BBS9
|
|
p.Arg278*/deletion of exon 9
|
cLOF/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Gerth et al. 2008
|
QWKB
|
2293
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
|
|
|
0
|
|
0
|
1
|
Canada
|
|
|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-B
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
4
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
CE16
|
22*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
0
|
1
|
1
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
|
Gerth et al. 2008
|
BBNF
|
2301
|
BBS1
|
|
p.Asp8Asp (splice)/p.Arg483*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
1
|
1
|
Canada
|
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-A
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
CE16
|
55*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|