White et al. 2006
|
TGDP
|
Patient D
|
BBS10
|
c.995_999delAAGA/c.995_999delAAGA
|
p.Gln242fs*17/p.Gln242fs*17
|
cLOF/cLOF
|
|
F
|
0-9
|
6
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
Omani
|
|
Bennouna-Greene et al. 2011
|
L1UE
|
01.06.06
|
BBS10
|
|
p.Cys91fs*5/p.Leu348fs*13
|
cLOF/cLOF
|
|
M
|
20-39
|
28
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Bennouna-Greene et al. 2011
|
2FSK
|
04.01.01
|
BBS10
|
|
p.Arg49Trp/p.Leu414Ser
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
Bennouna-Greene et al. 2011
|
OURF
|
04.02.02
|
BBS10
|
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
F
|
10-19
|
16
|
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Yoon et al. 2014
|
J447
|
brother
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
0-9
|
6,5
|
1
|
1
|
0
|
|
|
1
|
|
|
1
|
Korean
|
|
Bennouna-Greene et al. 2011
|
NK6A
|
1.10.19
|
BBS10
|
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
Yoon et al. 2014
|
J447
|
case
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
10-19
|
17,5
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Korean
|
|
Bennouna-Greene et al. 2011
|
LCQ5
|
1.12.21
|
BBS10
|
|
p.Cys91fs*5/p.Tyr321*
|
cLOF/cLOF
|
|
M
|
20-39
|
30
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Billingsley et al. 2010
|
CE16
|
22*
|
BBS10
|
|
p.Cys91Trp/p.Ala474Metfs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
0
|
1
|
1
|
0
|
1
|
|
0
|
1
|
German/Italian
|
|
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
|
|
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
|
|
Billingsley et al. 2010
|
PXHX
|
60yy
|
BBS10
|
|
p.Lys188Thr/p.Ala636Val
|
MS/MS
|
[]
|
F
|
0-9
|
6
|
1
|
0
|
1
|
1
|
|
1
|
|
0
|
1
|
Turkish
|
|
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
|
|
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
|
|
Billingsley et al. 2010
|
6XEU
|
79z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
|
F
|
10-19
|
18
|
1
|
|
1
|
0
|
0
|
0
|
|
|
|
British
|
|
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
|
|
Billingsley et al. 2010
|
6XEU
|
80z
|
BBS10
|
|
p.Cys91Leufs*5/p.His410Gln
|
cLOF/MS
|
[]
|
F
|
10-19
|
15
|
1
|
1
|
1
|
|
0
|
0
|
|
|
|
British
|
|
Gerth et al. 2008
|
OZTA
|
2621
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
0
|
|
Canada
|
|
Branfield Day et al. 2015
|
NA
|
1
|
BBS10
|
|
|
|
|
F
|
10-19
|
15,2
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Branfield Day et al. 2015
|
NA
|
2
|
BBS10
|
|
|
|
|
F
|
10-19
|
14,4
|
|
1
|
|
|
|
1
|
|
1
|
|
NA
|
|
Branfield Day et al. 2015
|
NA
|
7
|
BBS10
|
|
|
|
|
F
|
10-19
|
16
|
|
1
|
|
|
|
0
|
|
0
|
|
NA
|
|
Branfield Day et al. 2015
|
NA
|
16
|
BBS10
|
|
|
|
|
F
|
20-39
|
20,3
|
|
1
|
|
|
|
1
|
|
0
|
|
British
|
|