|
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
|
|
|
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
|
|
|
Gerth et al. 2008
|
QWKB
|
2293
|
BBS1
|
|
p.Met390Arg/p.Asn524del
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
1
|
|
|
|
0
|
|
0
|
1
|
Canada
|
|
|
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
|
|
|
Gerth et al. 2008
|
BBNF
|
2301
|
BBS1
|
|
p.Asp8Asp (splice)/p.Arg483*
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
1
|
1
|
Canada
|
|
|
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
|
|
|
Billingsley et al. 2010
|
CE16
|
55*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
0
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
|
Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
|
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
|
|
|
Gerth et al. 2008
|
NSTJ
|
2597
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
21
|
1
|
1
|
1
|
1
|
|
0
|
|
0
|
|
Canada
|
|
|
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
|
|
|
Billingsley et al. 2010
|
PXHX
|
65y
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
20-39
|
27
|
1
|
1
|
1
|
1
|
1
|
0
|
|
0
|
1
|
South African Black
|
|
|
Gerth et al. 2008
|
TM2Q
|
2213
|
BBS10
|
|
p.Cys91Trp/p.Val707*fs*1
|
MS/cLOF
|
|
F
|
10-19
|
14
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
|
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
|
|
|
Billingsley et al. 2010
|
PXHX
|
66y
|
BBS10
|
|
p.Leu55Pro/p.Glu274Valfs*29
|
MS/cLOF
|
[]
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
1
|
South African Black
|
|
|
Gerth et al. 2008
|
IT83
|
2294
|
BBS10
|
|
p.Cys91fs*5/p.Arg103fs*8
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
|
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
|
|
|
Gerth et al. 2008
|
OZTA
|
2296
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
12
|
1
|
1
|
1
|
|
|
1
|
|
0
|
1
|
Canada
|
|
|
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
|
|