Castro-Sanchez et al. 2015
|
9WGR
|
GBB2 (102)
|
BBS10
|
|
p.Tyr559fs*17/p.Tyr559fs*17
|
cLOF/cLOF
|
|
M
|
40+
|
46
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
Chaki et al. 2011
|
H8CI
|
F1054-22
|
BBS16
|
c.1796T>G/c.1796T>G
|
p.Leu599* /p.Leu599*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Castro-Sanchez et al. 2015
|
IJVR
|
GBB36 (I)
|
BBS10
|
|
p.Val331Ala/p.Val331Ala
|
MS/MS
|
|
M
|
40+
|
45
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
0
|
Spanish
|
|
Chaki et al. 2011
|
BHW5
|
F159-21
|
BBS16
|
c.421-?_740+?del/c.421-?_740+?del
|
p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
BHW5
|
F159-22
|
BBS16
|
c.421-?_740+?del/c.421-?_740+?del
|
p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Chaki et al. 2011
|
5NJD
|
F195-21
|
BBS16
|
c.1946_1949del4/c.1946_1949del4
|
p.Cys649fs*10/p.Cys649fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
Castro-Sanchez et al. 2015
|
4SJL
|
81
|
BBS12
|
|
p.Leu88Arg/p.Asn461Lysfs*10
|
MS/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
0
|
1
|
1
|
0
|
1
|
1!
|
Spanish
|
[]
|
Iannaccone et al. 2005
|
M1KN
|
pat1
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
0
|
0
|
1
|
|
|
|
0
|
Italian
|
|
Castro-Sanchez et al. 2015
|
9VM7
|
M250-(127)‡
|
BBS12
|
|
p.Phe372fs*1/p.Phe372fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
53
|
1
|
1
|
1
|
0
|
1
|
|
0
|
|
0
|
Spanish
|
|
Iannaccone et al. 2005
|
M1KN
|
pat3
|
BBS4
|
c.77-220del/c.77-220del
|
truncated/truncated
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
0
|
1
|
1
|
|
|
0
|
Italian
|
|
Innes et al. 2010
|
KVYU
|
P1
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
1
|
Hutterite
|
|
Castro-Sanchez et al. 2017
|
UY2P
|
Case 3
|
BBS2
|
c.1932T>A/c.1932T>A
|
p.Tyr644*/p.Tyr644*
|
cLOF/cLOF
|
|
M
|
0-9
|
6
|
1
|
1
|
1
|
0
|
0
|
|
|
|
|
Spanish
|
|
Cox et al. 2012
|
D2VE
|
PT2
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Cox et al. 2012
|
PZDS
|
PT3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
Davies et al. 2018
|
RJCD
|
BBS005
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
60+
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
|
|
White European
|
|
Janssen et al. 2011
|
8Y4G
|
AR707 (A2864)-9
|
BBS10
|
c.271_272insT/c.1407T>G
|
p.Cys91fs*5/p.Tyr469*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
ZIWZ
|
AR880 (A2881) -4
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
N. European
|
|
Shaheen et al. 2016
|
QHSP
|
F-16-23
|
BBS2
|
c.806T>G/c.806T>G
|
p.Val269Gly/p.Val269Gly
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
1
|
|
1
|
Saudi Arabian
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891) -4
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891)-5
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
Janssen et al. 2011
|
RZU9
|
F523 0
|
BBS10
|
c.539G>A/c.539G>A
|
p.Gly180Glu/p.Gly180Glu
|
MS/MS
|
|
|
|
|
|
|
|
|
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
HWI6
|
AR248 (A2843) -5
|
BBS12
|
c.998G>A/c.998G>A
|
p.Gly333Glu/p.Gly333Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
N. European
|
|
Janssen et al. 2011
|
DRZF
|
A1155 0
|
BBS2
|
c.947G>A/c.947G>A
|
p.Gly316Asp/p.Gly316Asp
|
MS/MS
|
|
|
|
|
0
|
|
1
|
|
0
|
1
|
1
|
|
|
N. European
|
|
Shaheen et al. 2016
|
ZKT1
|
F-209 293
|
BBS20
|
c.4630C>T/c.4630C>T
|
p.Arg1544Cys/p.Arg1544Cys
|
MS/MS
|
|
|
|
|
|
|
1
|
|
|
|
|
1
|
|
Saudi Arabian
|
|
Shaheen et al. 2016
|
GWM7
|
F-11-16
|
BBS4
|
c.1180C>T/c.1180C>T
|
p.Gln394*/p.Gln394*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
Saudi Arabian
|
|