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Table 1 NPHP and NPHP-RC patients with SDCCAG8 mutations in previous and present reports

From: Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome

Individual-family no.

Clinical diagnosis

ESKD age

Extrarenal manifestations

Hetero/homo

Nucleotide change

Amino acid change

Origin

Consanguineous

Journal

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

 
  1. Several patients were reported with otitis media and asthma. ESKD end-stage kidney disease, SLS Senior-Løken syndrome, BBS Bardet–Biedl syndrome, NPHP Nephronophthisis, hom Homozygous, hetero Heterozygous, NPHP-RC Nephronophthisis-related ciliopathies, RP Retinitis pigmentosa, MR Mental retardation, ND No data