Table 1 Mutations and glucose excretion in the patients and their relatives

 I:1 (62)

9.6 g/24 h

IVS1-16C > A

WT

AciI,Sequencing

 I:2 (60)

–

WT

WT

AciI,Sequencing

 II:1 (36)

–

IVS1-16C > A

WT

AciI,Sequencing

 II:2(34)

–

IVS1-16C > A

WT

AciI,Sequencing

 I:1 (42)

–

c.305C > T/p.(A102V)

WT

HaeII

 I:2 (39)

–

WT

WT

HaeII

 II:1 (20)

19.6 g/24 h

c.305C > T/p.(A102V)

WT

HaeII

 I:1 (50)

1+

c.395G > A/p.(R132H)

WT

HaeII

 I:2 (48)

–

WT

WT

HaeII

 II:1 (23)

7.9 g/24 h

c.395G > A/p.(R132H)

WT

HaeII

 II:4 (47)

37.6 g/24 h

c.736C > T/p. (P246S)

c.1496G > A/p.(R499H)

BamH I

StyI, Sequencing

 I:1 (63)

–

c.886(−10_-31)del

WT

10% 29:1 PAGE Gel

 I:2 (61)

–

WT

WT

10% 29:1 PAGE Gel

 II:1 (39)

18.7 g/24 h

c.886(−10_-31)del

WT

10% 29:1 PAGE Gel

 II:2 (38)

–

WT

WT

10% 29:1 PAGE Gel

 III:1 (12)

–

c.886(−10_-31)del

WT

10% 29:1 PAGE Gel

 I:1 (31)

8.3 g/24 h

c.886(−10_-31)del

WT

10% 29:1 PAGE Gel

 I:1 (66)

2+

c.1152–63 del/

p.(Val385_Ala388del)

WT

Sequencing

 I:2 (64)

–

WT

WT

Sequencing

 II:1 (40)

1+

c.1152–63 del/

p.(Val385_Ala388del)

WT

Sequencing

 II:2 (38)

–

WT

WT

Sequencing

 II:3 (36)

–

WT

WT

Sequencing

 II:4 (32)

3.1 g/24 h

c.1152–63 del/

p.(Val385_Ala388del)

WT

Sequencing

 I:1 (47)

3.6 g/24 h

c.1222G > T/p.(D408Y)

WT

Sty I,Sequencing

 I:2 (45)

–

WT

WT

Sty I,Sequencing

 II:1 (22)

1+

c.1222G > T/p.(D408Y)

WT

Sty I,Sequencing

 I:1 (61)

–

WT

WT

Sequencing

 I:2 (61)

2+

c.1540 C > T/P.(P514S)

WT

Sequencing

 II:1 (37)

7.1 g/24 h

c.1540 C > T/P.(P514S)

WT

Sequencing

 I:1 (50)

11.8 g/24 h

c.1540 C > T/p.(P514S)

WT

Sequencing