Table 3 PKD1 mutations in Thai families identified by our group

PK015^a

IVS13-2A>T

IVS13

Del the first 74 nt of exon 14

FS at 1055 (PKD IV-terminal deletion)

Thongnoppakhun et al., 2000 [19]

PK039^a

c.5225_5226delAG (g.29124_29125delAG)

Exon 15

-

FS at 1672 (PKD XI – terminal deletion)

This study, Watnick et al., 1999[24], Rossetti et al., 2002 [15]

PK031^a,b

Q1828X (c.5693C>T)

Exon 15

-

Stop at 1828 (PKD XIII-terminal deletion)

This study, Rossetti et al., 2002 [15]

PK066^b

g.33184_33214del31 (31bpE19I19-2 to E19I19+29 or c.7913_7914+29del31)

Ex19-IVS19

Exon 19 skipping

FS at 2498 (REJ module-terminal deletion)

This study (Novel)

PK069^a

c.9451_9452delAT (g.39376_39377delAT)

Exon 26

-

FS at 3082 (TM 1-terminal deletion)

This study (Novel)

PK002^a

L3287del (c.10070_10072delCTC or g.41669_41671delCTC)

Exon 29

-

Inframe deletion of L3287 (TM 2)

This study (Novel)

PK009^a

IVS43+14del20

IVS43

Exon 43 skipping

Inframe deletion of 3904–4001 (TM 7–9)

Rungroj et al., 2001 [20]