|
Fedick et al. 2013
|
PZIT
|
4
|
BBS2
|
c.311A>C/c.1895G>C
|
p.Asp104Ala/p.Arg632Pro
|
MS/MS
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Ashkenazi Jewish
|
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-A
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
21
|
1
|
1
|
0
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
|
Young et al. 1998
|
VNDY
|
22
|
BBS3
|
|
|
|
|
M
|
20-39
|
36
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
9SFS
|
1.13.22
|
BBS12
|
|
p.Tyr257fs*10/p.Tyr257fs*10
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
QUPE
|
BBS-F09-B
|
BBS1
|
c.1110G>A/c.1110G>A
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
|
Tunisian
|
|
|
Young et al. 1998
|
VNDY
|
23
|
BBS3
|
|
|
|
|
M
|
20-39
|
31
|
|
1
|
1
|
0
|
|
|
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
4HTC
|
01.05.07
|
BBS2
|
|
p.Pro134fs*67/p.Leu209fs*21
|
cLOF/cLOF
|
|
M
|
20-39
|
27
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
H2VL
|
BBS-F11-A
|
BBS1
|
c.448C>T/c.448C>T
|
p.Arg146*/p.Arg146*
|
cLOF/cLOF
|
|
F
|
20-39
|
32
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
Tunisian
|
|
|
Young et al. 1998
|
VNDY
|
24
|
BBS3
|
|
|
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
0
|
|
1
|
1
|
|
|
Newfoundland
|
|
|
Bennouna-Greene et al. 2011
|
4HRZ
|
1.11.20
|
BBS6
|
c.429delCT/c.433delAG
|
p.Asp143fs*6/p.Ser479*
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
H2VL
|
BBS-F11-B
|
BBS1
|
c.448C>T/c.448C>T
|
p.Arg146*/p.Arg146*
|
cLOF/cLOF
|
|
F
|
40+
|
40
|
1
|
1
|
0
|
1
|
0
|
|
|
|
|
Tunisian
|
|
|
Bennouna-Greene et al. 2011
|
GRKW
|
01.08.12
|
BBS9
|
|
p.Arg278*/deletion of exon 9
|
cLOF/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-A
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
14
|
0
|
0
|
0
|
1
|
0
|
1
|
|
|
|
Tunisian
|
|
|
Bennouna-Greene et al. 2011
|
42P3
|
1.14.23
|
BBS9
|
|
deletion of exons 8 and 9/deletion of exons 8 and 9
|
cLOF/cLOF
|
|
M
|
20-39
|
22
|
0
|
1
|
|
1
|
|
|
|
|
|
French
|
|
|
M'hamdi et al. 2013
|
7H0X
|
BBS-F12-B
|
BBS1
|
c.39delA/c.39delA
|
p.Ala14Leufs*28/p.Ala14Leufs*28
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
4
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-A
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
|
M'hamdi et al. 2013
|
0P3E
|
BBS-F08-B
|
BBS10
|
c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC
|
p.Ser396Leufs*6/p.Ser396Leufs*6
|
cLOF/cLOF
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
|
Tunisian
|
|
|
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
|
|
|
M'hamdi et al. 2013
|
FHWS
|
BBS-F07-A
|
BBS2
|
c.565C>T/c.565C>T
|
p.Arg189*/p.Arg189*
|
cLOF/cLOF
|
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
|
M'hamdi et al. 2013
|
5XR9
|
BBS-F03-A
|
BBS4
|
|
deletion of exons 4-6/deletion of exons 4-6
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
4,5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
6XEU
|
79z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
|
M'hamdi et al. 2013
|
U5TO
|
BBS-F13-A
|
BBS5
|
c.149T>G/c.149T>G
|
p.Leu50Arg/p.Leu50Arg
|
MS/MS
|
[]
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
6XEU
|
80z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
|
M'hamdi et al. 2013
|
BK29
|
BBS-F10-A
|
BBS6
|
c.1272+1G>A/c.1272+1G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
|
Billingsley et al. 2010
|
YAGJ
|
126**
|
BBS12
|
|
p.Arg355Gln/p.Arg355Gln
|
MS/MS
|
[]
|
F
|
0-9
|
4
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Canadian Native Indian
|
|