Ece Solmaz et al. 2015
|
BXSX
|
9
|
BBS7
|
c.712_715delAGAG/c.712_715delAGAG
|
p.Arg238Glufs*59/p.Arg238Glufs*59
|
cLOF/cLOF
|
|
|
10-19
|
19
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
Turkish
|
|
Suspitsin et al.2015
|
8ANZ
|
II.4
|
BBS7
|
c.1967_1968delTAinsC/c.1967_1968delTAinsC
|
p.Leu656fs*18/p.Leu656fs*18
|
cLOF/cLOF
|
|
M
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Russian
|
|
Aldahmesh et al. 2014
|
3LKE
|
BBS_DG9b
|
BBS6
|
c.116C>T/c.116C>T
|
p.Pro39Leu/p.Pro39Leu
|
MS/MS
|
|
M
|
|
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Ece Solmaz et al. 2015
|
3AJL
|
11
|
BBS7
|
c.949C>G/c.949C>G
|
p.Leu317Val/p.Leu317Val
|
MS/MS
|
|
|
10-19
|
19
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
1
|
1
|
Turkish
|
|
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
|
|
Aldahmesh et al. 2014
|
AOMQ
|
BBS_DG6a
|
BBS7
|
c.602-2A>T/c.602-2A>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
0
|
|
Saudi Arabian
|
|
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
|
|
Suzuki et al. 2016
|
UFCD
|
19
|
BBS1
|
c.1139G>A/c.1139G>A
|
p.Arg380Gln/p.Arg380Gln
|
MS/MS
|
|
|
|
|
1
|
|
0
|
1
|
|
0
|
|
0
|
1
|
Omani
|
|
Aldahmesh et al. 2014
|
AOMQ
|
BBS_DG6b
|
BBS7
|
c.602-2A>T/c.602-2A>T
|
splice/splice
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Saudi Arabian
|
|
Laurier et al. 2006
|
00OK
|
A2
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
40+
|
50
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Lebanese
|
|
Suzuki et al. 2016
|
WMKD
|
4
|
BBS14
|
c.6012-12T>A/c.6012-12T>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese
|
|
Al-Hamed et al. 2014
|
73V9
|
Affected female-1
|
BBS5
|
c.966dupT/c.966dupT
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
|
1
|
0
|
|
1
|
Saudi Arabian
|
|
Laurier et al. 2006
|
00OK
|
A3
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
40+
|
47
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Lebanese
|
|
Suzuki et al. 2016
|
DZJM
|
5
|
BBS14
|
c.214G>T/c.6012-12T>A
|
p.Glu72*/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese
|
|
Al-Hamed et al. 2014
|
73V9
|
Affected female-2
|
BBS5
|
c.966dupT/c.966dupT
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
F
|
|
|
0
|
1
|
1
|
1
|
|
1
|
1
|
|
1
|
Saudi Arabian
|
|
Laurier et al. 2006
|
00OK
|
B4
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
F
|
20-39
|
22
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Lebanese
|
|
Suzuki et al. 2016
|
YWJV
|
9
|
BBS14
|
c.6271-8T>G/c.6012-12T>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese/Paraguayan
|
|
Al-Hamed et al. 2014
|
73V9
|
Affected male
|
BBS5
|
c.966dupT/c.966dupT
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
M
|
|
|
0
|
1
|
1
|
1
|
1
|
0
|
1
|
|
1
|
Saudi Arabian
|
|
Laurier et al. 2006
|
00OK
|
B5
|
BBS10
|
|
p.Ser311Ala/p.Ser311Ala
|
MS/MS
|
|
M
|
20-39
|
33
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Lebanese
|
|
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
|
H27Y
|
P1
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
10-19
|
16
|
0
|
|
1
|
1
|
|
1
|
1
|
|
|
USA
|
|
Suzuki et al. 2016
|
ZTJ4
|
13
|
BBS14
|
c.6012-12T>A/c.6012-12T>A
|
splice/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese
|
|
Azari et al. 2006
|
IZFY
|
P10#
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
40+
|
48
|
0
|
|
1
|
1
|
|
|
|
|
|
USA
|
|
Laurier et al. 2006
|
00OK
|
D4
|
BBS2
|
|
p.Gly139Val/p.Gly139Val
|
MS/MS
|
|
F
|
20-39
|
23
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Lebanese
|
|
Suzuki et al. 2016
|
JX2N
|
25
|
BBS14
|
c.1645C>T/c.6012-12T>A
|
p.Arg549*/splice
|
cLOF/cLOF
|
|
|
|
|
1
|
|
0
|
1
|
|
1
|
|
0
|
1
|
Japanese
|
|