1-1
|
SLS
|
11
|
RP, generalized seizures
|
hom
|
c.421-?_740+?del
|
p.E141_R247del107fs
|
Europe
|
Yes
|
[5, 7]
|
2-1
|
SLS
|
7
|
RP
|
3-2
|
BBS
|
13
|
RP,MR, hypogenitalism, obesity
|
hom
|
c.679A>T
|
p.K227X
|
Europe
|
Yes
|
4-2
|
BBS
|
13
|
RP, MR, hypogenitalism, obesity
|
5-3
|
BBS
|
22
|
RP, obesity, MR, hypogenitalism, peripheral neuropathy
|
het/het
|
c.696T>G/c.740+1delG
|
p.Y232X/p.R247fsX250
|
Northern Europe
|
No
|
6-3
|
BBS
|
ND
|
RP, MR, obesity
|
7-3
|
SLS
|
28
|
RP, obesity, clinodactyly
|
8-4
|
BBS
|
23
|
RP, MR, obesity
|
hom
|
c.740+356C>T
|
Loss of exonic splicing enhancer site
|
Gypsy
|
Yes
|
9-4
|
BBS
|
13
|
RP, MR, obesity
|
10-4
|
SLS
|
10
|
RP, MR
|
11-4
|
SLS
|
6
|
RP
|
12-4
|
BBS
|
31
|
RP, obesity, hypogenitalism
|
13
|
SLS
|
14
|
RP, intracranial arachnoid cyst, MR
|
hom
|
c.1068+1G>A
|
Obligatory splice site
|
Turkey
|
Yes
|
14-5
|
SLS
|
7
|
RP, MR
|
hom
|
c.1339-1340insG
|
p.E447fsX463
|
Algeria
|
Yes
|
15-5
|
SLS
|
4
|
RP
|
16-6
|
SLS
|
4
|
RP
|
hom
|
c.1420delG
|
p.E474fsX493
|
La Réunion
|
Yes
|
17-6
|
SLS
|
14
|
RP
|
18
|
BBS
|
ND
|
RP, MR, obesity
|
het/het
|
c.1444delA/c.1627_1630delGATA
|
p.T482fsX493/p.D543fsX566
|
India
|
No
|
19-7
|
NPHP
|
<10
|
polycystic ovary syndrome
|
hom
|
c.1796T>G
|
p.L599X
|
Pakistan
|
Yes
|
20-7
|
NPHP
|
<9
|
No
|
21
|
SLS
|
22
|
RP
|
hom
|
c.1946-1949delGTGT
|
p.C649fsX658
|
Germany
|
ND
|
22
|
BBS
|
5
|
RP, MR, obesity
|
hom
|
c.1120C>T
|
p.R374X
|
Turkey
|
Yes
|
23
|
SLS
|
17
|
RP
|
het
|
c.679A>T/c.784G>T
|
p.K227X/p.E262X
|
Germany
|
ND
|
[12]
|
24
|
NPHP
|
5
|
No
|
hom
|
c.696 T>G
|
p.Y232X
|
Turkey
|
Yes
|
25
|
SLS
|
>15
|
RP, polycystic ovaries, hepatomegaly
|
hom
|
c.1444delA
|
p.T482LfsX12
|
USA
|
ND
|
26
|
SLS
|
12
|
RP
|
het
|
c.1420delG
|
p.E474SfsX20
|
Spain
|
ND
|
27
|
NPHP
|
ND
|
No
|
hom
|
c.1444delA
|
p.T482LfsX12
|
Arab
|
Yes
|
[13]
|
28
|
SLS
|
3
|
RP, MR
|
hom
|
c.845_848delTTTG
|
p.C283X
|
Japan
|
Yes
|
[11]
|
29
|
NPHP
|
2
|
MR
|
hom
|
c.849_852delTTTG
|
p.C283X
|
Japan
|
No
|
[14]
|
30 (this case)
|
BBS
|
9
|
RP, obesity
|
hom
|
c.1357-9G>A
|
New acceptor AG-site
|
Japan
|
Yes
| |