Kerr et al. 2015
|
D9ZV
|
16
|
BBS6
|
|
p.Cys99Arg/p.Cys99Arg
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
1
|
1
|
0
|
1
|
1
|
|
1
|
0
|
Portugese
|
[]
|
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
|
|
Deveault et al. 2011
|
DSU0
|
72
|
BBS6
|
|
p.Pro299Leu/p.Pro299Leu
|
MS/MS
|
|
F
|
10-19
|
13
|
1
|
1
|
1
|
0
|
1
|
1
|
|
0
|
1
|
French/Canadian
|
|
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
|
|
Schaefer et al. 2011(b)
|
ESHT
|
II.6
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Ajmal et al. 2013
|
8PK6
|
Family A IV:4
|
BBS1
|
c.47+1G>T/c.47+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
1
|
Pakistani
|
|
Deveault et al. 2011
|
IXHU
|
4
|
BBS7
|
/IVS6+2T>C
|
p.Gly63Arg/splice
|
MS/cLOF
|
[]
|
F
|
40+
|
40
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Italian
|
|
Kerr et al. 2015
|
ARZ9
|
18
|
BBS7
|
|
p.Arg238Glufs*59/p.Ser374*
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1!
|
1
|
1
|
|
1
|
1
|
Peruvian/Spanish
|
[]
|
Schaefer et al. 2011(b)
|
ZT7M
|
VII.26
|
BBS10
|
c.145C>T/c.145C>T
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Deveault et al. 2011
|
IXHU
|
5
|
BBS7
|
/IVS6+2T>C
|
p.Gly63Arg/splice
|
MS/cLOF
|
|
M
|
20-39
|
33
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
1
|
Italian
|
|
Kerr et al. 2015
|
YWXA
|
19e
|
BBS8
|
c.IVS2+1A/c.IVS2+1A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
17
|
1
|
1
|
1
|
1!
|
|
0
|
|
|
1
|
Pakistani
|
[]
|
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
|
|
Ajmal et al. 2013
|
V4HF
|
Family B IV:3
|
BBS1
|
c.442G>A/c.442G>A
|
p.Asp148Asn/p.Asp148Asn
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Pakistani
|
|
Deveault et al. 2011
|
81EN
|
71
|
BBS8
|
|
p.Gly162fs*4/p.Ile334fs*1
|
cLOF/cLOF
|
|
M
|
40+
|
44
|
1
|
1
|
1
|
1
|
1!
|
1
|
|
1
|
1
|
Mexican
|
[]
|
Kerr et al. 2015
|
YWXA
|
20e
|
BBS8
|
c.IVS2+1A/c.IVS2+1A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
19
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
1
|
Pakistani
|
[]
|
Schaefer et al. 2011(b)
|
LDHB
|
IV.3
|
BBS8
|
c.459G>A/c.459G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
French
|
|
Ajmal et al. 2013
|
V4HF
|
Family B IV:5
|
BBS1
|
c.442G>A/c.442G>A
|
p.Asp148Asn/p.Asp148Asn
|
MS/MS
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
0
|
Pakistani
|
|
Deveault et al. 2011
|
ERRX
|
35
|
BBS9
|
|
p.Thr111Leufs*22/p.Thr111Leufs*22
|
cLOF/cLOF
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
1
|
Italian
|
|
Schaefer et al. 2013
|
9V5G
|
II:2
|
BBS17
|
c.260T>C/c.778G>T
|
p.Leu87Pro/p.Glu260*
|
MS/cLOF
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
French
|
|
Deveault et al. 2011
|
ERRX
|
36
|
BBS9
|
|
p.Thr111Leufs*22/p.Thr111Leufs*22
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
1
|
Italian
|
|
Khan et al. 2013
|
ITYJ
|
B IV-3
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
20-39
|
26
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
Pakistani
|
|
Schaefer et al. 2013
|
9V5G
|
II:3
|
BBS17
|
c.260T>C/c.778G>T
|
p.Leu87Pro/p.Glu260*
|
MS/cLOF
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
French
|
|
Alazami et al. 2012
|
FLZL
|
JS_F12
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
F
|
|
|
|
|
1
|
1
|
|
1
|
|
0
|
1
|
Saudi Arabian
|
|
Ece Solmaz et al. 2015
|
6FB1
|
2
|
BBS1
|
c.48-3C>G/c.48-3C>G
|
splice/splice
|
cLOF/cLOF
|
|
|
0-9
|
2,5
|
0
|
0
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
Turkish
|
|
Khan et al. 2013
|
ITYJ
|
B IV-4
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
20-39
|
20
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
Pakistani
|
|