|
Billingsley et al. 2010
|
F7X3
|
2x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
24
|
1
|
0
|
1
|
0
|
0
|
0
|
|
1
|
1
|
Egyptian
|
|
|
Ghadami et al. 2000
|
YCV0
|
IV-10
|
BBS3
|
|
|
|
|
F
|
20-39
|
32
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
|
Otto et al. 2010
|
L0I5
|
FI.2_23
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
|
Billingsley et al. 2010
|
F7X3
|
3x
|
BBS12
|
|
p.Val400Met/p.Arg674Cys
|
MS/MS
|
|
M
|
20-39
|
22
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Egyptian
|
|
|
Ghadami et al. 2000
|
YCV0
|
IV-11
|
BBS3
|
|
|
|
|
F
|
20-39
|
30
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
|
Otto et al. 2010
|
L0I5
|
FI.2_24
|
BBS16
|
c.740+356C>T/c.740+356C>T
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
Gypsy
|
|
|
Billingsley et al. 2010
|
3PNW
|
56{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
0
|
|
1
|
|
0
|
|
Pakistani
|
|
|
Ghadami et al. 2000
|
YCV0
|
IV-14
|
BBS3
|
|
|
|
|
M
|
10-19
|
18
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Iranian
|
|
|
Otto et al. 2010
|
4DOC
|
FII.22_21
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
1
|
1
|
|
|
|
NA
|
|
|
Billingsley et al. 2012
|
MESS
|
40
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
[]
|
|
10-19
|
16
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
0
|
1
|
East Indian
|
|
|
Ghadami et al. 2000
|
YCV0
|
IV-9
|
BBS3
|
|
|
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
0
|
0
|
1
|
|
|
|
Iranian
|
|
|
Otto et al. 2010
|
4DOC
|
FII.22_22
|
BBS16
|
c.679A>T/c.679A>T
|
p.Lys227*/p.Lys227*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
1
|
1
|
|
|
|
NA
|
|
|
Billingsley et al. 2012
|
MESS
|
59
|
BBS16
|
|
p.Thr482Lysfs*12/p.Asp543Alafs*24
|
cLOF/cLOF
|
|
|
10-19
|
13
|
1
|
1
|
0
|
1!
|
0
|
1
|
1
|
1
|
1
|
East Indian
|
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:2
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
F
|
|
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
|
Otto et al. 2010
|
AZ5O
|
NK-F1063
|
BBS16
|
c.1444delA/c.1627_1630delGATA
|
p.Thr482fs*12/p.Asp543fs*24
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
|
1
|
|
1
|
|
|
|
India
|
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:4
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
[]
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
0
|
Spanish
|
|
|
Otto et al. 2010
|
IDME
|
SS23/A1365_21
|
BBS16
|
c.1420delG/c.1420delG
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
La Réunion
|
|
|
González‐del Pozo et al. 2013
|
7KIL
|
II:5
|
BBS6
|
c.269A>G/c.1186G>T
|
p.Asp90Gly/p.Val396Phe
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
0
|
Spanish
|
|
|
Otto et al. 2010
|
IDME
|
SS23/A1365_22
|
BBS16
|
c.1420delG/c.1420delG
|
p.Glu474fs*20/p.Glu474fs*20
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
La Réunion
|
|
|
Pawlik et al. 2010
|
RNS3
|
IV-2
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
30
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II1(AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
0
|
0
|
0
|
1
|
0
|
|
|
1
|
Europe
|
|
|
Pawlik et al. 2010
|
RNS3
|
IV-3
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
20-39
|
27
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Harville et al. 2010
|
CCK1
|
A2876-II2 (AR844)
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
Europe
|
|
|
Pawlik et al. 2010
|
RNS3
|
IV-9
|
BBS12
|
c.2103C>A/c.2103C>A
|
p.Ser701*/p.Ser701*
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
0
|
Pakistani
|
|
|
Harville et al. 2010
|
2RC7
|
A2880-II1
|
BBS1
|
c.1169T>G/c.1169T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
1
|
Europe
|
|