Bennouna-Greene et al. 2011
|
NX9Z
|
01.02.03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
F
|
40+
|
53
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Fan et al. 2004
|
GC3Y
|
PID 9
|
BBS1
|
c.1179T>G/c.1179T>G
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
F
|
40+
|
62
|
1
|
1
|
0
|
|
1
|
1
|
|
|
|
Newfoundland
|
|
Lindstrand et al. 2016
|
ZFSG
|
KK11-04
|
BBS3
|
|
deletion of exons 4-9/deletion of exons 4-9
|
cLOF/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
1
|
|
1
|
|
|
|
1
|
Saudi Arabian
|
|
van Huet et al. 2013
|
F1AK
|
C-II:2
|
BBS21
|
c.529C>T/c.529C>T
|
p.Arg177Trp/p.Arg177Trp
|
MS/MS
|
|
M
|
20-39
|
30
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
Bennouna-Greene et al. 2011
|
GIZN
|
01.03.04
|
BBS1
|
|
p.Met390Arg/p.Glu384*
|
MS/cLOF
|
|
F
|
20-39
|
28
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Fattahi et al. 2014
|
KQKK
|
35201
|
BBS12
|
c.1156_1157CG>TA/c.1156_1157CG>TA
|
p.Arg386*/p.Arg386*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
1
|
|
|
|
Iranian
|
|
Lindstrand et al. 2016
|
MJ9E
|
AR400-03
|
BBS4
|
|
deletion of exons 5-6/deletion of exons 5-6
|
cLOF/cLOF
|
|
F
|
10-19
|
11
|
1
|
1
|
1
|
1
|
|
|
|
|
1
|
NA
|
|
van Huet et al. 2013
|
DRB7
|
D-IV:1
|
BBS21
|
c.545A>G/c.545A>G
|
p.Gln182Arg/p.Gln182Arg
|
MS/MS
|
|
F
|
20-39
|
38
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
Fattahi et al. 2014
|
GEMF
|
36000
|
BBS12
|
c.2019del/c.2019del
|
p.Trp673Cysfs*7/p.Trp673Cysfs*7
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
0
|
1
|
0
|
|
|
|
Iranian
|
|
Lindstrand et al. 2016
|
ZFQ9
|
AR800-03
|
BBS4
|
|
deletion of exons 5-6/deletion of exons 5-6
|
cLOF/cLOF
|
|
M
|
0-9
|
5
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
NA
|
|
van Huet et al. 2013
|
DRB7
|
D-IV:3
|
BBS21
|
c.545A>G/c.545A>G
|
p.Gln182Arg/p.Gln182Arg
|
MS/MS
|
|
F
|
40+
|
43
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
Lindstrand et al. 2016
|
2JO8
|
44/3
|
BBS7
|
c.87_88delCA/c.87_88delCA
|
p.His29Glnfs*12/p.His29Glnfs*12
|
cLOF/cLOF
|
[]
|
M
|
|
|
1
|
1
|
1
|
|
1
|
1
|
|
|
1
|
Israel
|
[]
|
van Huet et al. 2013
|
DRB7
|
D-IV:4
|
BBS21
|
c.545A>G/c.545A>G
|
p.Gln182Arg/p.Gln182Arg
|
MS/MS
|
|
F
|
40+
|
40
|
1
|
0
|
0
|
0
|
0
|
0
|
|
|
|
NA
|
|
Bennouna-Greene et al. 2011
|
TFG2
|
05.02.07
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
34
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Fattahi et al. 2014
|
VO8X
|
34754
|
BBS2
|
c.1003C>T/c.1003C>T
|
p.Gln335*/p.Gln335*
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
1
|
|
|
|
Iranian
|
|
Lindstrand et al. 2016
|
1WD9
|
AR634-03
|
BBS7
|
|
deletion of exons 16-17/p.Gln293Pro
|
cLOF/MS
|
|
F
|
10-19
|
17
|
1
|
1
|
0
|
1
|
|
0
|
|
|
1
|
NA
|
|
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
|
|
Bennouna-Greene et al. 2011
|
Q3SV
|
06.01.01
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
20-39
|
33
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
Fattahi et al. 2014
|
2X8V
|
34885
|
BBS2
|
c.471G>C/c.471G>C
|
p.Thr157Thr (splice)/p.Thr157Thr (splice)
|
cLOF/cLOF
|
|
|
|
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Iranian
|
|
Lindstrand et al. 2016
|
1WD9
|
AR634-04
|
BBS7
|
|
deletion of exons 16-17/p.Gln293Pro
|
cLOF/MS
|
|
M
|
10-19
|
15
|
1
|
1
|
0
|
1
|
1
|
|
|
|
|
NA
|
|
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
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.04
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|
Maria et al. 2016
|
M2A5
|
F05 V:2
|
BBS12
|
c.2014G>A/c.2014G>A
|
p.Ala672Thr/p.Ala672Thr
|
MS/MS
|
|
M
|
20-39
|
20
|
1
|
1
|
0
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
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
|
|
Bennouna-Greene et al. 2011
|
2KMJ
|
06.02.05
|
BBS1
|
|
p.Met390Arg/p.Glu549*
|
MS/cLOF
|
|
F
|
20-39
|
21
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|