|
Billingsley et al. 2010
|
F7X3
|
3x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Egyptian
|
|
|
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
|
|
|
Castro-Sanchez et al. 2015
|
1E9W
|
B182 (910)
|
BBS10
|
|
p.Val331Ala/p.Leu533Leufs*21
|
MS/cLOF
|
|
M
|
40+
|
48
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
Spanish
|
|
|
Abu-Safieh et al. 2012
|
ZLPD
|
BBS-F019-A
|
BBS6
|
c.871G>T/c.871G>T
|
p.Val291Phe/p.Val291Phe
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
ZLPD
|
BBS-F019-B
|
BBS6
|
c.871G>T/c.871G>T
|
p.Val291Phe/p.Val291Phe
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
|
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
|
|
|
Shaheen et al. 2016
|
NLII
|
F-18-25
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
NLII
|
F-18-26
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Esposito et al. 2017
|
ZUWC
|
P.15
|
BBS10
|
c.641T>A/c.641T>A
|
p.Val214Glu/p.Val214Glu
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Janssen et al. 2011
|
F9UG
|
AR124 (A2832) -3
|
BBS2
|
c.IVS3-1delG/c.1371delG
|
p.Val158fs*43/p.Leu457fs*30
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
[]
|
|
Janssen et al. 2011
|
F9UG
|
AR124 (A2832)-4
|
BBS2
|
c.IVS3-1delG/c.1371delG
|
p.Val158fs*43/p.Leu457fs*30
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
0
|
1
|
|
|
1
|
N. European
|
[]
|
|
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
|
|
|
Katsanis et al. 2000
|
L1JD
|
AR301
|
BBS6
|
|
p.Tyr58Ala/p.Tyr58Ala
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
0
|
|
|
|
European/American
|
|
|
Castro-Sanchez et al. 2015
|
ORRW
|
GBB1 (100)
|
BBS10
|
|
p.Tyr559fs*17/p.Tyr559fs*17
|
cLOF/cLOF
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
|
1
|
1
|
1
|
|
|
Spanish
|
|
|
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
|
|
|
Abu-Safieh et al. 2012
|
M722
|
BBS-F011-A
|
BBS10
|
c.1365T>G/c.1365T>G
|
p.Tyr455*/p.Tyr455*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Katsanis et al. 2000
|
0DJ3
|
AR237 1
|
BBS6
|
|
p.Tyr37Cys/p.Tyr37Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
|
1
|
|
|
|
|
|
European/American
|
[]
|
|
Katsanis et al. 2001
|
HYFU
|
AR237 2
|
BBS6
|
|
p.Tyr37Cys/p.Tyr37Cys
|
MS/MS
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
European/American
|
|
|
Schaefer et al. 2011(b)
|
JZRL
|
V.31
|
BBS6
|
c.110A>G/c.890T>C
|
p.Tyr37Cys/p.Ile297Thr
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
|
1
|
1
|
|
|
|
French
|
|
|
Deveault et al. 2011
|
1RCS
|
62
|
BBS2
|
|
p.Tyr317Cys/p.Tyr317Cys
|
MS/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
1
|
0
|
|
0
|
|
1
|
1
|
Somalian
|
|
|
Ece Solmaz et al. 2015
|
DWMJ
|
3
|
BBS1
|
c.851delA/c.851delA
|
p.Tyr284Serfs*5/p.Tyr284Serfs*5
|
cLOF/cLOF
|
|
|
10-19
|
16
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
Turkish
|
|
|
Shaheen et al. 2016
|
9H7D
|
F-12-18
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-33
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-34
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
0
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
6TP3
|
F-22-35
|
BBS12
|
c.787dup/c.787dup
|
p.Tyr263Leufs*4/p.Tyr263Leufs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|