Shin et al. 2015
|
50Z6
|
II:2
|
BBS7
|
c.103-1G>A/c.728G>A
|
splice/p.Cys243Tyr
|
cLOF/MS
|
|
M
|
20-39
|
26
|
1
|
1
|
0
|
1
|
0
|
1
|
1
|
0
|
1
|
Korean
|
|
Deveault et al. 2011
|
75UO
|
15
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
[]
|
M
|
10-19
|
17
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
1
|
Denea
|
|
Deveault et al. 2011
|
75UO
|
16
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
|
M
|
20-39
|
30
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Denea
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-02
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
0
|
|
|
1
|
|
|
0
|
USA
|
[]
|
Deveault et al. 2011
|
75UO
|
18
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
|
M
|
40+
|
43
|
1
|
1
|
1
|
1
|
|
1
|
|
1
|
|
Denea
|
|
Schaefer et al. 2011(a)
|
V42F
|
AR37-05
|
BBS16
|
c.696T>G/c.740+1delG
|
p.Tyr232*/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
22
|
1
|
1
|
0
|
|
1
|
1
|
|
|
0
|
USA
|
[]
|
Deveault et al. 2011
|
75UO
|
82
|
BBS2
|
|
p.Leu125Arg/p.Leu125Arg
|
MS/MS
|
[]
|
M
|
20-39
|
22
|
1
|
1
|
1
|
|
|
1
|
1
|
|
1
|
Denea
|
|
Deveault et al. 2011
|
UHVP
|
123
|
BBS2
|
|
p.Lys39Lys (splice)/p.Arg324*
|
cLOF/cLOF
|
|
M
|
20-39
|
23
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
1
|
Caucasian
|
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.21
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
37
|
1
|
0
|
0
|
|
|
1
|
|
|
|
French
|
|
Kerr et al. 2015
|
OVPA
|
10c
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
German/Italian
|
[]
|
Kerr et al. 2015
|
OVPA
|
11c
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
20-39
|
20
|
1
|
1!
|
1
|
1!
|
0
|
1
|
|
|
1
|
German/Italian
|
[]
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.24
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
8
|
1
|
0
|
0
|
|
|
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
|
|
Schaefer et al. 2011(a)
|
DRXS
|
I.2.25
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
M
|
20-39
|
31
|
1
|
1
|
0
|
|
1
|
1
|
|
|
1
|
French
|
|
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
|
|
Deveault et al. 2011
|
UAMN
|
50
|
BBS5
|
|
p.Gly72Ser/p.Gly72Ser
|
MS/MS
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1!
|
1
|
0
|
|
1
|
1
|
Somalian
|
[]
|
Deveault et al. 2011
|
WE5M
|
76
|
BBS6
|
|
p.Gly41Arg/p.Gly41Arg
|
MS/MS
|
|
M
|
0-9
|
8
|
1
|
1
|
1
|
|
|
|
1
|
|
|
Arabica
|
|
Kerr et al. 2015
|
8WRO
|
15d
|
BBS4
|
c.IVS3-3c>g/c.IVS3-3c>g
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
0
|
1
|
Iraqi
|
[]
|
Agha et al. 2013
|
7E5A
|
IV-1
|
BBS10
|
c.1958_1967del/c.1958_1967del
|
p.Ser653Ilefs*4/p.Ser653Ilefs*4
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
Pakistani
|
|
Deveault et al. 2011
|
5J36
|
46
|
BBS6
|
|
p.Phe94Serfs*9/p.Phe94Serfs*9
|
cLOF/cLOF
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
1
|
Newfoundland
|
|
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
|
[]
|
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
|
|
Ajmal et al. 2013
|
8PK6
|
Family A IV:5
|
BBS1
|
c.47+1G>T/c.47+1G>T
|
splice/splice
|
cLOF/cLOF
|
|
M
|
|
|
1
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
1
|
Pakistani
|
|
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
|
|
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
|
|