|
Shaheen et al. 2016
|
TFZC
|
F-9-14
|
BBS12
|
c.2041_2049del/c.2041_2049del
|
p.Leu682_Leu684del/p.Leu682_Leu684del
|
MS/MS
|
|
|
|
|
1
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
|
Bennouna-Greene et al. 2011
|
TFG2
|
05.02.07
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Yang et al. 2008
|
TD84
|
IV:2
|
BBS7
|
c.1666A>G/c.1666A>G
|
p.Ser556Arg/p.Ser556Arg
|
MS/MS
|
|
M
|
20-39
|
37
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Chinese
|
|
|
Yang et al. 2008
|
TD84
|
IV:4
|
BBS7
|
c.1666A>G/c.1666A>G
|
p.Ser556Arg/p.Ser556Arg
|
MS/MS
|
|
M
|
20-39
|
32
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Chinese
|
|
|
Castro-Sanchez et al. 2015
|
T2D0
|
M333-(826)
|
BBS12
|
|
p.Phe372fs*1/p.Phe372fs*1
|
cLOF/cLOF
|
|
F
|
20-39
|
37
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
0
|
Spanish
|
|
|
Katsanis et al. 2000
|
SZVU
|
NF-B1 1
|
BBS6
|
|
p.Asp143fs*15/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
|
Katsanis et al. 2000
|
SZVU
|
NF-B1 2
|
BBS6
|
|
p.Asp143fs*15/p.Phe94fs*10
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Newfoundland
|
|
|
Abu-Safieh et al. 2012
|
SZVM
|
BBS-F001-A
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
SZVM
|
BBS-F001-B
|
BBS1
|
c.124+1G>A/c.124+1G>A
|
p.Leu43Glyfs*44/p.Leu43Glyfs*44
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
Saudi Arabian
|
|
|
Phelps et al. 2017
|
SWCP
|
UW263-3
|
BBS14
|
|
|
|
|
|
|
|
1
|
|
0
|
|
|
1
|
|
0
|
|
European
|
|
|
Harville et al. 2010
|
SRNJ
|
A2005-II1
|
BBS7
|
c.688T>C/c.688T>C
|
p.Trp320Arg/p.Trp320Arg
|
MS/MS
|
|
|
|
|
0
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Turkish
|
|
|
Sathya Priya et al. 2015
|
SREX
|
BBS-F1
|
BBS10
|
c.1227delA/c.1227delA
|
p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
|
Scheidecker et al. 2013
|
SQF2
|
|
BBS18
|
c.173T>G/c.173T>G
|
p.Leu58*/p.Leu58*
|
cLOF/cLOF
|
|
M
|
40+
|
49
|
1
|
1
|
0
|
1
|
0
|
1
|
|
|
0
|
Italian
|
|
|
Shaheen et al. 2016
|
SPQD
|
F-37-61
|
BBS10
|
c.1892_1896del/c.1892_1896del
|
p.Met631Asnfs*3/p.Met631Asnfs*3
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
|
|
|
|
|
|
Saudi Arabian
|
|
|
Castro-Sanchez et al. 2015
|
SFDV
|
B164 (463)
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
1
|
1
|
Spanish
|
|
|
Esposito et al. 2017
|
SC5U
|
P.1
|
BBS1
|
c.664G>C/c.664G>C
|
p.Gly222Arg/p.Gly222Arg
|
MS/MS
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Harville et al. 2010
|
S9R9
|
A2015-II1
|
BBS12
|
c.1589T>C/c.1589T>C
|
p.Leu530Pro/p.Leu530Pro
|
MS/MS
|
|
|
|
|
1
|
0
|
1
|
1
|
1
|
1
|
|
|
|
Pakistani
|
|
|
Chaki et al. 2011
|
S87U
|
A197-21
|
BBS14
|
c.3175_3176insA/c.7341_7342insA
|
p.Ile1059fs*11/p.Leu2448fs*8
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
0
|
|
1
|
|
0
|
|
NA
|
|
|
Harville et al. 2010
|
S37F
|
A2004-II2
|
BBS7
|
c.711_714delGAGA/c.711_714delGAGA
|
p.Arg238fs*59/p.Arg238fs*59
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Turkish
|
|
|
Janssen et al. 2011
|
RZU9
|
F523 0
|
BBS10
|
c.539G>A/c.539G>A
|
p.Gly180Glu/p.Gly180Glu
|
MS/MS
|
|
|
|
|
|
|
|
|
|
1
|
|
|
|
N. European
|
|
|
Abu-Safieh et al. 2012
|
RYSZ
|
BBS-F023-A
|
BBS10
|
c.1889_1893del/c.1889_1893del
|
p.Ser630Asnfs*4/p.Ser630Asnfs*4
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Kerr et al. 2015
|
RYP1
|
17
|
BBS6
|
|
p.Gly41Arg/p.Gly41Arg
|
MS/MS
|
|
F
|
0-9
|
7
|
1
|
1
|
1
|
0
|
|
1!
|
1
|
0
|
|
Arabica
|
|
|
Leitch et al. 2008
|
RXWS
|
PB215-04
|
BBS13
|
|
p.Cys492Trp/p.Phe371del
|
MS/MS
|
|
M
|
0-9
|
2
|
0
|
1
|
1
|
|
|
0
|
|
0
|
0
|
Turkish
|
|
|
Shaheen et al. 2016
|
RSZT
|
F-221 307
|
BBS10
|
c.959_962delGTTA/c.959_962delGTTA
|
p.Ser320Ilefs*5/p.Ser320Ilefs*5
|
cLOF/cLOF
|
|
|
|
|
|
|
1
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
|
Deveault et al. 2011
|
RRKI
|
127
|
BBS12
|
|
p.Ser578*/p.Ser578*
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
El-Salvadorian
|
|