M'hamdi et al. 2013
|
UH14
|
BBS-F14-A
|
BBS8
|
c.459+1G>A/c.459+1G>A
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
4
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Tunisian
|
|
Sathya Priya et al. 2015
|
UGBG
|
BBS-H
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91fs*5/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Indian
|
|
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
|
|
Deveault et al. 2011
|
UAMN
|
50
|
BBS5
|
|
p.Gly72Ser/p.Gly72Ser
|
MS/MS
|
|
M
|
10-19
|
16
|
1
|
1
|
1
|
1!
|
1
|
0
|
|
1
|
1
|
Somalian
|
[]
|
Shaheen et al. 2016
|
U9IZ
|
F-64-120
|
BBS4
|
c.157-2A>G/c.157-2A>G
|
p.Ala53Hisfs*2/p.Ala53Hisfs*2
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
|
|
|
|
Saudi Arabian
|
|
Sathya Priya et al. 2015
|
U9D6
|
BBS-A
|
BBS4
|
c.1077-?_1601+?/c.1077-?_1601+?
|
p.?/p.?
|
?/?
|
|
|
|
|
1
|
0
|
1
|
1
|
|
0
|
|
|
|
Indian
|
|
Castro-Sanchez et al. 2015
|
U7OU
|
RP1011 (1184)§
|
BBS12
|
|
p.Gly540Asp/p.Gly540Asp
|
MS/MS
|
|
F
|
40+
|
40
|
1
|
1
|
1
|
1
|
0
|
|
|
|
1
|
Spanish
|
|
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
|
|
Castro-Sanchez et al. 2015
|
U1ZZ
|
RP1378 (24)‡
|
BBS1
|
|
p.Met390Arg/p.Asp278fs*9
|
MS/cLOF
|
|
F
|
20-39
|
34
|
1
|
1
|
0
|
0
|
0
|
|
|
|
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
U1ZZ
|
RP1378 (858)‡
|
BBS1
|
|
p.Met390Arg/p.Asp278fs*9
|
MS/cLOF
|
|
M
|
40+
|
41
|
1
|
1
|
1
|
0
|
|
|
|
|
|
Spanish
|
|
Chaki et al. 2011
|
TVBG
|
A1388-21
|
BBS14
|
c.136G>T/c.5649_5650insA
|
p.Glu46*/p.Leu1884fs*23
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5a
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs*57/p.Ala323Cysfs*57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
1
|
|
Saudi Arabian
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5b
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs∗57/p.Ala323Cysfs∗57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
Saudi Arabian
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5c
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs∗57/p.Ala323Cysfs∗57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
1
|
|
Saudi Arabian
|
|
Aldahmesh et al. 2014
|
TUBP
|
BBS_DG5d
|
BBS5
|
c.966dup/c.966dup
|
p.Ala323Cysfs∗57/p.Ala323Cysfs∗57
|
cLOF/cLOF
|
|
F
|
|
|
1
|
1
|
0
|
1
|
0
|
1
|
0
|
1
|
|
Saudi Arabian
|
|
Rahner et al. 2016
|
TUBA
|
II.1
|
BBS21
|
c.155+2T>C/c.155+2T>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
20-39
|
20
|
1
|
0
|
1
|
|
|
0
|
0
|
|
|
Moroccan
|
|
Rahner et al. 2016
|
TUBA
|
II.3
|
BBS21
|
c.155+2T>C/c.155+2T>C
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
|
|
0
|
0
|
|
|
Moroccan
|
|
Qi et al. 2017
|
TTDR
|
|
BBS6
|
c.1175C>T/c.1192C>T
|
p.Thr392Met/p.Gln398*
|
MS/cLOF
|
[]
|
F
|
10-19
|
10
|
1
|
0
|
1
|
1
|
|
1
|
|
|
|
Chinese
|
|
Chaki et al. 2011
|
TMOJ
|
F394-27
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890* /p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
0
|
|
|
1
|
|
1
|
|
0
|
|
NA
|
|
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
|
|
Deveault et al. 2011
|
TGKV
|
52
|
BBS12
|
|
p.Ser35*/p.Ser35*
|
cLOF/cLOF
|
[]
|
M
|
10-19
|
19
|
1
|
1
|
1
|
1
|
0
|
0
|
|
0
|
1
|
Mexican
|
|
White et al. 2006
|
TGDP
|
Patient A
|
BBS10
|
c.995_999delAAGA/c.995_999delAAGA
|
p.Gln242fs*17/p.Gln242fs*17
|
cLOF/cLOF
|
|
M
|
20-39
|
24
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
|
1
|
Omani
|
|
White et al. 2006
|
TGDP
|
Patient B
|
BBS10
|
c.995_999delAAGA/c.995_999delAAGA
|
p.Gln242fs*17/p.Gln242fs*17
|
cLOF/cLOF
|
|
M
|
10-19
|
13
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
|
1
|
Omani
|
|
White et al. 2006
|
TGDP
|
Patient C
|
BBS10
|
c.995_999delAAGA/c.995_999delAAGA
|
p.Gln242fs*17/p.Gln242fs*17
|
cLOF/cLOF
|
|
M
|
0-9
|
4
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
1
|
Omani
|
|
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
|
|