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
|
|
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
|
|
Suzuki et al. 2016
|
PVIK
|
10
|
BBS14
|
c.6012-12T>A/c.6012-12T>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
0
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese
|
|
Azari et al. 2006
|
PUF2
|
P2
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
10-19
|
16
|
1
|
1
|
1
|
|
|
|
|
|
|
USA
|
|
Bee et al. 2015
|
PTO2
|
II:2
|
BBS2
|
c.1864C>T/c.1932T>A
|
p.Arg622*/p.Tyr644*
|
cLOF/cLOF
|
|
F
|
20-39
|
37
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Malay
|
|
Riise et al. 2002
|
PTMJ
|
VIII-1
|
BBS4
|
A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
1
|
0
|
1
|
|
0
|
|
|
|
Scandinavian
|
[]
|
Riise et al. 2002
|
PTMJ
|
VIII-2
|
BBS4
|
A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Scandinavian
|
[]
|
Hjortshoj et al. 2009
|
PT3J
|
FO-02
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
10-19
|
17
|
1
|
1
|
1
|
1
|
0
|
|
|
|
|
Faroe Islands
|
|
Abu-Safieh et al. 2012
|
PQKI
|
BBS-F017-A
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Castro-Sanchez et al. 2015
|
POGM
|
M79 (1608)§
|
BBS6
|
|
p.Gly250Arg/p.Gly250Arg
|
MS/MS
|
|
F
|
20-39
|
36
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
0
|
Spanish
|
|
Davies et al. 2018
|
PHRO
|
BBS006
|
BBS1
|
|
p.Met390Arg/p.Gly73*
|
MS/cLOF
|
|
M
|
40+
|
40-49
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
|
White European
|
|
Sathya Priya et al. 2015
|
PBI3
|
BBS-F
|
BBS2
|
c.376A>G/c.376A>G
|
p.Ile123Val/p.Ile123Val
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
Davies et al. 2018
|
PAQG
|
BBS002
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
60+
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
|
White European
|
|
Chaki et al. 2011
|
P927
|
F89-21
|
BBS14
|
c.5515_5518del4/c.5649_5650insA
|
p.Glu1843fs*7/p.Leu1883fs*24
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Shaheen et al. 2016
|
P78N
|
F-162 233
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
1
|
|
|
|
Saudi Arabian
|
|
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
|
|
Gerth et al. 2008
|
OZTA
|
2621
|
BBS10
|
|
p.Cys91Trp/p.Ala474fs*10
|
MS/cLOF
|
|
M
|
10-19
|
14
|
1
|
1
|
0
|
|
|
1
|
|
0
|
|
Canada
|
|
Khan et al. 2016 (b)
|
OZLS
|
IV-4
|
BBS9
|
c.299delC/c.299delC
|
p.Ser100Leufs*24/p.Ser100Leufs*24
|
cLOF/cLOF
|
|
M
|
20-39
|
20
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
0
|
1
|
Pakistani
|
|
Khan et al. 2016 (b)
|
OZLS
|
Iv-5
|
BBS9
|
c.299delC/c.299delC
|
p.Ser100Leufs*24/p.Ser100Leufs*24
|
cLOF/cLOF
|
|
F
|
10-19
|
18
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
1
|
Pakistani
|
|
Harville et al. 2010
|
OWHJ
|
A2885-II1 (AKK65)
|
BBS1
|
c.IVS2+1G>A/c.IVS2+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
Saudi Arabian
|
|
Harville et al. 2010
|
OWHJ
|
A2885-II2 (AKK65)
|
BBS1
|
c.IVS2+1G>A/c.IVS2+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
1
|
Saudi Arabian
|
|
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
|
[]
|
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
|
|