Table 1 Clinical presentation of kidney and liver disease in 8 affected individuals with GANAB variants

Gender

Female

Female

Male

Female

Male

Female

Female

Female

Diagnosis

ADPLD

ADPLD

ADPLD

ADPLD

ADPLD

ADPKD

ADPLD

ADPLD

Mutation (RefSeq NM_198335)

Chromosome position (Hg19)

g.62400926TG>G

g.62400926TG>G

g.62393841C>T

g.62394111C>T

g.62396665G>C

g.62414056delTAGCGG

g.62397125G>C

g.62397125G>C

cDNA change

c.687delT

c.687delT

c.2656C>T

c.2509C>T

c.2002+1G>C

c.11_16delTAGCGG

c.1835G>C

c.1835G>C

Amino acid change

p.Asp229Glufs*60

p.Asp229Glufs*60

p.Arg886*

p.Arg837*

Splicing variant

p.Val4_Ala5del

p.Arg612Pro

p.Arg612Pro

Radiological presentation

Type

CT

Ultrasound

CT

CT

n/a

MRI

CT

CT

Liver cysts

> 20 cysts

multiple cysts

15 cysts

> 20 cysts

n/a

> 20 cysts

> 10 cysts

> 30 cysts

kidney cysts

No

No

2 bilateral cysts

No

n/a

> 20 bilateral cysts

3 cysts in left kidney

1 cyst in left kidney