|
Cox et al. 2012
|
PZDS
|
PT3
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
0
|
|
|
0
|
USA
|
|
|
Fedick et al. 2013
|
PZIT
|
3
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
Fedick et al. 2013
|
PZIT
|
4
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
Deveault et al. 2011
|
Q2X4
|
67
|
BBS10
|
|
p.Lys243Ilefs*15/p.Lys243Ilefs*15
|
cLOF/cLOF
|
|
F
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
South African Black
|
|
|
Bennouna-Greene et al. 2011
|
Q3SV
|
06.01.01
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
33
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
|
Kerr et al. 2015
|
Q5T5
|
21
|
BBS21
|
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Canadian
|
|
|
Esposito et al. 2017
|
Q6AP
|
P.13
|
BBS10
|
c.235dupA/c.271dupT
|
p.Thr79Asnfs*17/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Italian
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
Q71J
|
2/M
|
BBS1
|
|
p.Met390Arg/p.Leu388Pro
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
|
0
|
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
|
|
|
Abu-Safieh et al. 2012
|
Q9A6
|
BBS-F005-A
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
Saudi Arabian
|
|
|
Abu-Safieh et al. 2012
|
Q9A6
|
BBS-F005-B
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
|
Esposito et al. 2017
|
QAAA
|
P.8a
|
BBS2
|
c.84delC/c.1059dupT
|
p.Pro29Argfs*50/p.Asn354*
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
|
|
|
|
1
|
1
|
|
|
Italian
|
|
|
Hjortshoj et al. 2010
|
QC14
|
P42
|
BBS2
|
|
p.Arg216*/p.Tyr24*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Scandinavian
|
|
|
Katsanis et al. 2001
|
QDX9
|
AR029²
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
European/American
|
|
|
Yamamura et al. 2017
|
QFG2
|
patient 2
|
BBS6
|
c.986-1G>A/c.986-1G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
Japanese
|
|
|
Castro-Sanchez et al. 2015
|
QGJM
|
M713-(336)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
35
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
Castro-Sanchez et al. 2015
|
QGJM
|
M713-(337)‡
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
20-39
|
33
|
1
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
Spanish
|
|
|
Deveault et al. 2011
|
QGOK
|
10
|
BBS10
|
|
p.Cys91Trp/p.Val707*fs*1
|
MS/cLOF
|
[]
|
F
|
10-19
|
17
|
1
|
1
|
1
|
1!
|
|
1!
|
|
1
|
1
|
English/Irish
|
|
|
Alazami et al. 2012
|
QH09
|
JS_F3
|
BBS14
|
c.4714G>T/c.4714G>T
|
p.Glu1572*/p.Glu1572*
|
cLOF/cLOF
|
|
F
|
|
|
|
|
0
|
1
|
|
1
|
|
0
|
1
|
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
|
|
|
Schaefer et al. 2011(b)
|
QIBS
|
I.10
|
BBS10
|
c.271_272insT/c.1091delA
|
p.Cys91Leufs*5/p.Asn364Thrfs*5
|
cLOF/cLOF
|
|
F
|
|
|
1
|
0
|
1
|
|
1
|
1
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
QJ44
|
BBS-F02-A
|
BBS2
|
c.345+5G>A/c.345+5G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
6
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
|
Deveault et al. 2011
|
QJBM
|
139
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
1
|
|
0
|
|
|
1
|
Nicaraguan
|
|
|
Sathya Priya et al. 2015
|
QRH7
|
BBS-D1
|
BBS6
|
c.1595G>T/c.1549C>T
|
p.Gly532Val/p.Arg517Cys
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
1
|
Indian
|
|
|
Shaheen et al. 2016
|
QT17
|
F-25-41
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Saudi Arabian
|
|