M'hamdi et al. 2013
|
VK14
|
BBS-F01-A
|
BBS1
|
c.1473+4A>G/c.1473+4A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
0-9
|
5
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Tunisian
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
M'hamdi et al. 2013
|
BK29
|
BBS-F10-A
|
BBS6
|
c.1272+1G>A/c.1272+1G>A
|
splice/splice
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Tunisian
|
|
Billingsley et al. 2010
|
YAGJ
|
126**
|
BBS12
|
|
p.Arg355Gln/p.Arg355Gln
|
MS/MS
|
[]
|
F
|
0-9
|
4
|
1
|
1
|
1
|
1
|
|
|
|
|
|
Canadian Native Indian
|
|
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
|
|
Billingsley et al. 2010
|
3PNW
|
24{
|
BBS12
|
|
p.Asp480Metfs*3/p.Asp480Metfs*3
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
0
|
1
|
|
1
|
1
|
|
0
|
1
|
Pakistani
|
|
Reiner et al. 2018
|
XDWM
|
Patient
|
BBS9
|
|
deletion of exons 1-4/deletion of exons 1-4
|
cLOF/cLOF
|
|
M
|
0-9
|
1
|
|
1
|
1
|
|
0
|
0
|
0
|
|
1
|
Guyanese
|
|
Hjortshoj et al. 2009
|
XLU7
|
FO-07
|
BBS1
|
c.1091+3G>C/c.1091+3G>C
|
splice/splice
|
cLOF/cLOF
|
|
|
0-9
|
4
|
1
|
1
|
1
|
|
0
|
|
|
|
|
Faroe Islands
|
|
Hjortshoj et al. 2010
|
MIU3
|
P14
|
BBS10
|
|
p.Cys91Trpfs*5/p.Cys91Trpfs*5
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
8
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
VNHI
|
P41
|
BBS10
|
|
p.Arg49Trp/p.Arg49Trp
|
MS/MS
|
[]
|
M
|
0-9
|
7
|
1
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
58IU
|
P47
|
BBS10
|
|
p.Cys91Trpfs*5/p.Gln623*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
9
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
W986
|
P1
|
BBS2
|
|
p.Phe221fs*25/p.Phe221fs*25
|
cLOF/cLOF
|
[]
|
F
|
0-9
|
6
|
1
|
1
|
1
|
0
|
|
0
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
Y6V5
|
P16
|
BBS2
|
|
p.Phe221fs*25/p.Arg216*
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
0
|
1
|
|
|
|
Scandinavian
|
|
Hjortshoj et al. 2010
|
XKZA
|
P57
|
BBS2
|
|
p.Val94Serfs*8/p.Val94Serfs*8
|
cLOF/cLOF
|
[]
|
M
|
0-9
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Scandinavian
|
|
Castro-Sanchez et al. 2015
|
M6S4
|
GBB27 (II)‡
|
BBS1
|
|
p.Met390Arg/p.His504fs*48
|
MS/cLOF
|
|
F
|
0-9
|
3
|
1
|
1
|
1
|
1
|
0
|
0
|
0
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
DJNC
|
GBB16 (3775)‡
|
BBS10
|
|
p.Cys91fs*4/p.Tyr503fs*17
|
cLOF/cLOF
|
|
M
|
0-9
|
9
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
|
1
|
Spanish
|
|
Castro-Sanchez et al. 2015
|
DJNC
|
GBB16 (4038)‡
|
BBS10
|
|
p.Cys91fs*4/p.Tyr503fs*17
|
cLOF/cLOF
|
|
M
|
0-9
|
7
|
1
|
|
1
|
1
|
1
|
1
|
|
|
1
|
Spanish
|
|
Innes et al. 2010
|
BF8A
|
P2
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
0,5
|
|
|
1
|
|
1
|
|
1
|
|
|
Hutterite
|
|
Innes et al. 2010
|
HFPV
|
P3
|
BBS2
|
c.472-2A>G/c.472-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
0-9
|
6
|
1
|
|
1
|
|
|
1
|
|
|
|
Hutterite
|
|
Iurian et al. 2015
|
X6V2
|
C.V.N
|
BBS12
|
c.1063C>T/c.1063C>T
|
p.Arg355*/p.Arg355*
|
cLOF/cLOF
|
|
M
|
0-9
|
5 month
|
0
|
1
|
1
|
|
1
|
|
1
|
|
1
|
Romanian
|
|
Castro-Sanchez et al. 2017
|
UY2P
|
Case 3
|
BBS2
|
c.1932T>A/c.1932T>A
|
p.Tyr644*/p.Tyr644*
|
cLOF/cLOF
|
|
M
|
0-9
|
6
|
1
|
1
|
1
|
0
|
0
|
|
|
|
|
Spanish
|
|