Table 1 Clinical details of affected cases and others with unusual phenotypes

Affected

III:4

F

56

N/A

N/A

N/A

N/A

N/A

Dead; PKD

N/D

III:8

M

63

N/A

N/A

N/A

N/A

N/A

Dead; PKD

N/D

IV:9

F

67

1.4

113

125

LC 10x6 mm

Normal

1142delG

IV:10

F

75

1.8

108

135

Multiple cysts

9 mm stone

1142delG

IV:13

M

77

Dialysis (75 y)

105

100

LC 22x10 mm

11 mm stone in middle caulis

Dead; PKD

N/D

IV:17

M

63

1.8

118

110

LC 15x8 mm

9 mm stone

1142delG

IV:20

F

53

Tx (50 y)

150

160

Multiple cysts

Multiple cysts

Dead; PKD

N/D

IV:23

M

50

0.9

115

105

4 mm stone

LC 15x8 mm

N/D

V:1

M

54

Dialysis (54 y)

N/A

N/A

N/A

N/A

Dead; PKD

N/D

V:5

M

42

1.1

125

110

LC 15x8 mm

3 mm stone

1142delG

2 mm stone in middle caulis

V:9

F

38

1.3

100

95

LC 23x18 mm

9 mm stone in middle caulis

1142delG

3.5 mm stone in middle caulis

V:14

M

32

0.9

105

105

Multiple cysts

Stone 3 mm

1142delG

V:16 (proband)

M

30

1.2

105

100

1 cyst, 12x12 mm

1 cyst, 27x22 mm

1142delG

V:22

M

46

1.2

118

110

3 mm stone

1 cyst, 13x13 mm

1142delG

V:24

M

35

0.9

105

107

Normal

2 mm stone

1142delG

V:27

F

49

1.3

108

115

Normal

3.5 mm stone

1142delG

LC 3x3 mm

V:29

F

54

2.5

105

110

1 cyst 10x10 mm

1 cyst, 8x8 mm

1 liver cyst

1142delG

3 mm stone

V:39

F

38

1.8

160

170

Multiple cysts

Multiple cysts

1142delG

4.5 mm stone in interlobular region

V:43

F

37

0.7

112

124

Normal

1 cyst, 13x13 mm

22x23 mm liver cyst

1142delG

VI:5

F

20

0.7

95

90

1.5 mm stone

Normal

1142delG

VI:6

F

16

0.7

108

109

Normal

3 mm stone

1142delG

VI:30

F

16

0.8

108

98

Normal

Normal

1142delG

PKD suspected but not proven

IV:15

M

62

0.8

105

100

LC 20x10 mm

9 mm stone in middle caulis

N/D

3.5 mm stone in middle caulis

IV:19

F

51

1.5

108

105

1 cyst, 12x8 mm;10 mm stone

11 mm stone in middle caulis

N/D

V:10

F

41

1.2

108

105

1 cyst, 10x5 mm

Normal

N/D

V:19

M

40

1.1

112

108

1 cyst, 6x6 mm

Normal

N/D

V:25

M

32

0.8

100

105

1 cyst, 6x6 mm

Normal

N/D

V:26

M

26

0.8

105

100

2 mm stone

1 mm stone

N/D

VI:2

F

14

0.8

95

107

Normal

1 cyst, 5x4 mm; 1.5 mm stone

N/D

VI:14

M

24

1.3

107

105

2 mm stone

1 cyst, 7x6 mm

N/D

VI:16

M

24

1.7

110

112

Normal

1 cyst, 8X10 mm

N/D

VI:17

F

17

0.8

95

95

1 stone

Normal

N/D

VI:22

M

45

1.4

107

105

1 cyst, 8x5mm

2.6 mm stone

N/D

VI:24

M

33

1.1

112

100

1 cyst, 6 mm

Normal

N/D

Unaffected

V:3

F

53

0.9

105

---

Normal

Congenitally absent

1142G

V:17

M

39

0.9

110

100

Normal

Normal

N/D

V:32

F

64

3.59

100

95

43 mm stone, hydronephrosis

6.7 mm stone

1142G

VI:9

F

20

0.7

100

96

Normal

Normal

Non Syndromic Mental Retardation,

N/D

Normal Karyotype

VI:10

M

16

0.7

108

109

Normal

Normal

Non Syndromic Mental Retardation

N/D

Normal Karyotype

VI:19

F

34

0.8

95

105

Normal

Normal

1142G

VI:20

M

46

0.7

100

105

Normal

Normal

1142G

VI:28

M

?

N/A

N/A

N/A

N/A

N/A

Congenital heart disease, Down syndrome; Dead

N/D

VII:3

M

17

Tx (14y)

85

---

No cysts

Congenitally absent

Reflux Nephropathy

1142G