Lindstrand et al. 2016
|
LYAD
|
AR246-03
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
[]
|
M
|
10-19
|
12
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
1
|
NA
|
|
Ullah et al. 2017
|
D8UI
|
C IV-1
|
BBS8
|
c.1347G>C/c.1347G>C
|
p.Gln449His/p.Gln449His
|
MS/MS
|
|
M
|
10-19
|
13
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Pakistani
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
F
|
10-19
|
17
|
0
|
1
|
0
|
|
|
|
|
|
1
|
United Kingdom
|
|
Ullah et al. 2017
|
D8UI
|
C IV-2
|
BBS8
|
c.1347G>C/c.1347G>C
|
p.Gln449His/p.Gln449His
|
MS/MS
|
|
M
|
10-19
|
12
|
1
|
1
|
1
|
1
|
1
|
|
|
|
|
Pakistani
|
|
Ullah et al. 2017
|
D8UI
|
C IV-6
|
BBS8
|
c.1347G>C/c.1347G>C
|
p.Gln449His/p.Gln449His
|
MS/MS
|
|
F
|
10-19
|
10
|
1
|
1
|
1
|
1
|
|
0
|
|
|
|
Pakistani
|
|
Baker et al. 2010
|
NA
|
NA
|
BBS1
|
|
|
|
|
F
|
10-19
|
18
|
1
|
|
1
|
|
|
|
|
|
1
|
United Kingdom
|
|
Estrada-Cuzcano et al. 2012 (b)
|
0JE6
|
V:1
|
BBS21
|
c.156-2A>G/c.156-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
F
|
10-19
|
17
|
1
|
|
1
|
|
|
|
|
|
|
Netherland
|
|
Estrada-Cuzcano et al. 2012 (b)
|
0JE6
|
V:2
|
BBS21
|
c.156-2A>G/c.156-2A>G
|
splice/splice
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
|
1
|
|
|
|
|
|
|
Netherland
|
|
Lindstrand et al. 2016
|
FQTJ
|
DM034-004
|
BBS3
|
|
deletion of exons 4-9/deletion of exons 4-9
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
0
|
|
|
|
1
|
0
|
NA
|
|
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
|
|
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
|
|
Bennouna-Greene et al. 2011
|
I8TW
|
01.07.15
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
18
|
0
|
1
|
|
0
|
|
|
|
|
|
French
|
|
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
|
|
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
|
|
Bennouna-Greene et al. 2011
|
K7Y0
|
1.4.c
|
BBS1
|
|
p.Met390Arg/p.Met390Arg
|
MS/MS
|
|
M
|
10-19
|
17
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
Bennouna-Greene et al. 2011
|
2FSK
|
04.01.01
|
BBS10
|
|
p.Arg49Trp/p.Leu414Ser
|
MS/MS
|
|
M
|
10-19
|
19
|
1
|
0
|
|
0
|
|
|
|
|
|
French
|
|
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
|
|
Maria et al. 2016
|
MOAU
|
F03 IV:2
|
BBS5
|
c.734_744del/c.734_744del
|
p.Glu245Glyfs*18/p.Glu245Glyfs*18
|
cLOF/cLOF
|
|
F
|
10-19
|
15
|
1
|
0
|
1
|
0
|
1
|
0
|
|
1
|
1
|
Pakistani
|
|
Maria et al. 2016
|
AHHU
|
F04 IV:2
|
BBS9
|
c.1789C>T/c.1789C>T
|
p.Gln597*/p.Gln597*
|
cLOF/cLOF
|
|
M
|
10-19
|
15
|
1
|
1
|
1
|
1
|
1
|
1
|
|
1
|
|
Pakistani
|
|
Yoon et al. 2014
|
J447
|
case
|
BBS10
|
c.235_236insA/c.530A>G
|
p.Thr78Asnfs*17/p.Tyr177Cys
|
cLOF/MS
|
|
M
|
10-19
|
17,5
|
1
|
1
|
1
|
1
|
1
|
0
|
|
|
|
Korean
|
|
Marion et al. 2012
|
CPKG
|
BBE93
|
BBS17
|
c.402-406d/c.402-406d
|
p.Pro136Thrfs*/p.Pro136Thrfs*
|
cLOF/cLOF
|
|
M
|
10-19
|
10
|
1
|
1
|
1
|
1
|
1
|
1
|
0
|
0
|
1
|
Algerian
|
|
Bennouna-Greene et al. 2011
|
9SFS
|
1.13.22
|
BBS12
|
|
p.Tyr257fs*10/p.Tyr257fs*10
|
cLOF/cLOF
|
|
M
|
10-19
|
19
|
1
|
1
|
|
1
|
|
|
|
|
|
French
|
|
Bennouna-Greene et al. 2011
|
GRKW
|
01.08.12
|
BBS9
|
|
p.Arg278*/deletion of exon 9
|
cLOF/cLOF
|
|
M
|
10-19
|
17
|
1
|
1
|
|
0
|
|
|
|
|
|
French
|
|