|
Badano et al. 2003
|
NKEI
|
AR768-04
|
BBS1
|
|
p.Met390Arg/frameshift - deletion in exon 16
|
MS/cLOF
|
[]
|
F
|
0-9
|
7
|
1
|
1
|
|
1
|
1
|
|
|
|
|
Northern European
|
|
|
Castro-Sanchez et al. 2015
|
NKMZ
|
164
|
BBS12
|
|
p.Gly539Asp/p.Pro632Phefs*7
|
MS/cLOF
|
|
M
|
40+
|
50
|
1
|
1
|
1
|
1
|
1!
|
1
|
0
|
1
|
1!
|
Spanish
|
[]
|
|
Shaheen et al. 2016
|
NLII
|
F-18-25
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
NLII
|
F-18-26
|
BBS2
|
c.805_1910del/c.805_1910del
|
p.Val269Glufs*12/p.Val269Glufs*12
|
cLOF/cLOF
|
|
|
|
|
1
|
|
1
|
1
|
|
|
|
|
|
Saudi Arabian
|
|
|
Frank et al. 2007
|
NP9T
|
943
|
BBS13
|
c.1408-7_35del/c.417G>A
|
p.Glu139Glu (splice)/p.Glu139Glu (splice)
|
cLOF/cLOF
|
|
|
|
|
|
|
1
|
|
|
1
|
|
1
|
|
German
|
|
|
Deveault et al. 2011
|
NRG3
|
133
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
21
|
1
|
0
|
1
|
1
|
0
|
1
|
|
|
1
|
German/Irish/Swedish/Hungarian
|
|
|
Gerth et al. 2008
|
NSTJ
|
2597
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
20-39
|
21
|
1
|
1
|
1
|
1
|
|
0
|
|
0
|
|
Canada
|
|
|
Shaheen et al. 2016
|
NVC9
|
F-5-6
|
BBS4
|
c.1091C>A/c.1091C>A
|
p.Ala364Glu/p.Ala364Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
1
|
|
|
1
|
|
|
1
|
Saudi Arabian
|
|
|
Shaheen et al. 2016
|
NVC9
|
F-5-7
|
BBS4
|
c.1091C>A/c.1091C>A
|
p.Ala364Glu/p.Ala364Glu
|
MS/MS
|
|
|
|
|
1
|
1
|
0
|
|
|
|
1
|
|
1
|
Saudi Arabian
|
|
|
Bennouna-Greene et al. 2011
|
NX9Z
|
01.02.03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
53
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
|
Deveault et al. 2011
|
NZLP
|
130
|
BBS2
|
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
F
|
0-9
|
0
|
|
|
1
|
1
|
|
1
|
|
|
|
Lebanese
|
|
|
Deveault et al. 2011
|
NZLP
|
142
|
BBS2
|
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
1
|
1
|
|
|
1
|
Lebanese
|
|
|
Janssen et al. 2011
|
NZSY
|
A3436 0
|
BBS2
|
c.940delA/c.IVS6+2
|
p.Ile314fs*11/splice
|
cLOF/cLOF
|
|
|
|
|
0
|
1
|
1
|
|
|
1
|
|
|
|
Turkey
|
|
|
Fattahi et al. 2014
|
O03G
|
40302
|
BBS7
|
c.1342_1346delCAGGC/c.1443T>A
|
p.Gln448Argfs*13/p.Cys481*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
1
|
|
|
Iranian
|
|
|
Gerth et al. 2008
|
O76S
|
2512
|
BBS1
|
|
p.Met1Val/p.Met1Val
|
cLOF/cLOF
|
|
F
|
20-39
|
29
|
1
|
1
|
0
|
0
|
|
0
|
|
0
|
|
Canada
|
|
|
Deveault et al. 2011
|
O815
|
81
|
BBS2
|
|
p.Tyr24*/p.Tyr24*
|
cLOF/cLOF
|
|
F
|
10-19
|
17
|
1
|
1
|
1
|
0
|
0
|
1
|
1
|
|
0
|
NA
|
|
|
Ece Solmaz et al. 2015
|
O9MY
|
7
|
BBS10
|
c.1024_1025insA/c.1024_1025insA
|
p.Ile342Asnfs*20/p.Ile342Asnfs*20
|
cLOF/cLOF
|
|
|
10-19
|
15
|
1
|
1
|
0
|
1
|
1
|
0
|
0
|
0
|
1
|
Turkish
|
|
|
Lindstrand et al. 2014
|
O9YO
|
DM012-003
|
BBS10
|
c.271_272insT/c.271_272insT
|
p.Cys91Leufs*5/p.Cys91Leufs*5
|
cLOF/cLOF
|
[]
|
|
|
|
1
|
1
|
1
|
|
0
|
0
|
|
|
1
|
N. European
|
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891) -4
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
|
Janssen et al. 2011
|
ODT5
|
F1 (A2891)-5
|
BBS10
|
c.271_272insT/c.391delC
|
p.Cys91fs*5/p.Gln131fs*4
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
N. European
|
|
|
Estrada-Cuzcano et al. 2012 (a)
|
ONMF
|
11/M
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
|
|
1
|
0
|
0
|
0
|
0
|
1
|
0
|
|
0
|
Italian
|
|
|
Shaheen et al. 2016
|
OPSI
|
F-179 254
|
BBS14
|
c.5668G>T/c.5668G>T
|
p.Gly1890*/p.Gly1890*
|
cLOF/cLOF
|
|
|
|
|
1
|
|
|
|
|
|
|
|
1
|
Saudi Arabian
|
|
|
Castro-Sanchez et al. 2015
|
ORRW
|
GBB1 (100)
|
BBS10
|
|
p.Tyr559fs*17/p.Tyr559fs*17
|
cLOF/cLOF
|
|
F
|
20-39
|
33
|
1
|
1
|
1
|
|
1
|
1
|
1
|
|
|
Spanish
|
|
|
Janssen et al. 2011
|
OTUQ
|
A3185 0
|
BBS10
|
c.687delA/c.271_272insT
|
p.Pro229fs*8/p.Cys91fs*5
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
|
USA
|
|
|
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
|
|