|
Deveault et al. 2011
|
J5Z0
|
53
|
BBS5
|
c.387-618del232/c.387-618del232
|
p.?/p.?
|
|
|
F
|
20-39
|
28
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Jordanian
|
|
|
Kerr et al. 2015
|
Q5T5
|
21
|
BBS21
|
|
p.Lys102*/p.Lys102*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
0
|
0
|
|
|
|
|
|
Canadian
|
|
|
Schaefer et al. 2011(a)
|
KHCD
|
II.22.21
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
0
|
|
1
|
1
|
|
|
1
|
French
|
|
|
Schaefer et al. 2011(a)
|
KHCD
|
II.22.22
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
1
|
0
|
|
1
|
1
|
|
|
1
|
French
|
|
|
Deveault et al. 2011
|
WE5M
|
76
|
BBS6
|
|
p.Gly41Arg/p.Gly41Arg
|
MS/MS
|
|
M
|
0-9
|
8
|
1
|
1
|
1
|
|
|
|
1
|
|
|
Arabica
|
|
|
Schaefer et al. 2011(a)
|
ILMO
|
II.30
|
BBS16
|
c.1120C>T/c.1120C>T
|
p.Arg374*/p.Arg374*
|
cLOF/cLOF
|
|
F
|
0-9
|
6
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
French
|
|
|
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
|
|
|
Agha et al. 2013
|
7E5A
|
IV-3
|
BBS10
|
c.1958_1967del/c.1958_1967del
|
p.Ser653Ilefs*4/p.Ser653Ilefs*4
|
cLOF/cLOF
|
|
M
|
0-9
|
4
|
1
|
1
|
|
|
1
|
|
|
|
1
|
Pakistani
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Khan et al. 2013
|
ITYJ
|
B IV-2
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
F
|
20-39
|
37
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
|
|
Pakistani
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Khan et al. 2013
|
ITYJ
|
B IV-5
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
Pakistani
|
|
|
Khan et al. 2013
|
ITYJ
|
B IV-6
|
BBS10
|
|
p.Gln359*/p.Gln359*
|
cLOF/cLOF
|
|
M
|
10-19
|
13
|
1
|
1
|
1
|
1
|
0
|
|
0
|
|
|
Pakistani
|
|
|
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
|
|
|
Khan et al. 2013
|
38GY
|
A IV-3
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
F
|
20-39
|
38
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|
|
Scheidecker et al. 2015
|
0FX4
|
Case4
|
BBS1
|
|
p.Met390Arg/p.Gly318Valfs*61
|
MS/cLOF
|
|
M
|
20-39
|
27
|
1
|
0
|
1
|
1
|
0
|
0
|
|
|
|
French
|
|
|
Aldahmesh et al. 2014
|
UUT5
|
BBS_DG1a
|
BBS10
|
c.1736A>G/c.1736A>G
|
p.Lys579Arg/p.Lys579Arg
|
MS/MS
|
|
F
|
|
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
|
Saudi Arabian
|
|
|
Khan et al. 2013
|
38GY
|
A IV-4
|
BBS3
|
|
p.Ile94Thr/p.Ile94Thr
|
MS/MS
|
|
F
|
20-39
|
35
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
|
Pakistani
|
|