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Table 3 The semen analysis of 46 male patients

From: Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction

Gene

cDNA change

Exon/ intron

Amino acid change

Predicted location within PKD1 domains

Family No.

Agea

Inheriting/ageb

Semen analysis

PKD1

c.856_862delTCTGGCC

5

p.Ser286Serfs*2

Ig-like repeat domain

30

27

maternal

oligoasthenozoospermia

PKD1

c.1385G>T

6

p.Arg462Met

C-type lectin domain

77

30

paternal/25

asthenozoospermia

PKD1

c.2527 T > C

11

p.Ser843Pro

not defined

45

34

paternal/22

oligoasthenozoospermia

PKD1

c.7126C > T

17

p.Gln2376*

REJ

PKD1

c.2670 + 1G > A

IVS14

–

Ig-like repeat domain

19

34

maternal

asthenozoospermia

PKD1

c.3613G>C

15

p.Asp1205His

Ig-like repeat domain

64

30

paternal/28

asthenozoospermia

PKD2

c.965G>A

4

p.Arg322Gln

–

PKD1

c.4447C > T

15

p.Gln1483*

Ig-like repeat domain

13

30

paternal/25

oligoasthenozoospermia

PKD1

c.4551C > A

15

p.Tyr1517*

Ig-like repeat domain

39

31

maternal

asthenozoospermia

PKD1

c.4609G > T

15

p.Glu1537*

Ig-like repeat domain

31

37

paternal/29

asthenozoospermia

PKD1

c.5957C>T

15

p.Thr1986Met

Ig-like repeat domain

87

38

paternal/23

asthenozoospermia

PKD1

c.6115C > T

15

p.Gln2039*

Ig-like repeat domain

55

36

paternal/25

asthenozoospermia

PKD1

c.6199C > T

15

p.Gln2067*

Ig-like repeat domain

34

23

maternal

oligoasthenozoospermia

PKD1

c.6658C>T

15

p.Arg2220Trp

REJ

85

31

paternal/22

oligoasthenozoospermia

PKD1

c.6704C>T

15

p.Ser2235Leu

REJ

70

30

paternal/29

asthenozoospermia

PKD1

c.7241C > T

18

p.Thr2414Met

REJ

10

30

maternal

oligoasthenozoospermia

PKD1

c.11269 + 1G > A

IVS39

–

not defined

PKD1

c.7863 + 1G > C

IVS20

–

REJ

36

42

maternal

oligoasthenozoospermia

PKD1

c.7863 + 2 T > G

IVS20

–

REJ

11

33

maternal

asthenozoospermia

PKD1

c.7915C > T

21

p.Arg2639*

REJ

54

35

paternal/32

asthenozoospermia

PKD1

c.7973_7974delTG

21

p.Val2658Glyfs*2

REJ

9

33

paternal/28

asthenozoospermia

PKD1

c.8744A > G

23

p.Asn2915Ser

not defined

28

34

maternal

oligoasthenozoospermia

PKD1

c.12570_12571insCTCC

46

p.Ser4190Serfs*21

not defined

PKD1

c.9666_9667delGA

28

p.Glu3222Aspfs*30

not defined

32

29

paternal/24

oligoasthenozoospermia

PKD1

EX31-33del

31–33

–

not defined

72

35

de novo

oligozoospermia

PKD1

c.10220 + 2 T > C

IVS32

–

not defined

3

44

NA

oligoasthenozoospermia

PKD1

c.12053C > T

44

p.Thr4018Ile

not defined

PKD1

c.10397C > G

34

p.Ser3466*

not defined

6

27

paternal/22

oligoasthenozoospermia

PKD1

c.10524_10525delAG

35

p.Glu3509Aspfs*117

not defined

2

28

NA

oligoasthenozoospermia

PKD1

c.6804delG

15

p.Trp2268Cysfs*46

REJ

63

35

de novo

azoospermia

PKD1

c.10710_10715delGGCTGT

36

p.3571_3572del2

Putative TM region

40

34

maternal

asthenozoospermia

PKD1

c.10896_10897delGA

37

p.Ser3633Profs*88

not defined

5

37

de novo

oligoasthenozoospermia

PKD1

c.10937 T>G

37

p.Val3646Gly

not defined

68

32

paternal/26

asthenozoospermia

PKD1

c.10951G>A

37

p.Gly3651Ser

not defined

79

35

maternal

oligoasthenozoospermia

PKD1

c.11240delC

39

p.Pro3747Hisfs*79

not defined

33

33

paternal/25

oligoasthenozoospermia

PKD1

c.11538-2A > G

IVS41

–

not defined

18

36

paternal/30

oligoasthenozoospermia

PKD1

c.11617_11637del21

42

p.3873_3879del7

not defined

4

25

NA

asthenozoospermia

PKD1

c.11699_11700ins10

42

p.Leu3901Alafs*63

Putative TM region

22

29

paternal/22

asthenozoospermia

PKD1

c.11830_11838dup

43

p.Leu3944_Ala3946dup

Putative TM region

52

26

paternal/21

oligoasthenozoospermia

PKD1

c.11945A>C

43

p.Gln3982Pro

Putative TM region

78

33

paternal/28

asthenozoospermia

PKD1

c.12712C > T

46

p.Gln4238*

not defined

46

34

maternal

asthenozoospermia

PKD3

c.518G>A

5

p.Arg173Gln

–

58

37

paternal/27

asthenozoospermia

PKD1

c.1198C > T

5

p.Arg400*

not defined

17

29

maternal

normal

PKD1

c.5600A > G

15

p.Asn1867Ser

Ig-like repeat domain

PKD1

c.3931G>A

15

p.Ala1311Thr

Ig-like repeat domain

80

27

de novo

normal

PKD1

c.2039A > T

10

p.Tyr680Phe

not defined

20

27

paternal/27

normal

PKD1

c.5637C > G

15

p.Tyr1879*

Ig-like repeat domain

PKD1

c.4273C > T

15

p.Arg1425Cys

Ig-like repeat domain

15

31

paternal/28

normal

PKD1

c.8750C > T

23

p.Ala2917Val

not defined

PKD1

c.11512C > T

41

p.Gln3838*

Putative TM region

PKD1

c.6813_6814delAC

15

p.Arg2272Glyfs*147

REJ

7

32

NA

normal

PKD1

c.7144A>C

17

p.Ser2382Arg

REJ

67

29

maternal

normal

PKD1

c.10050 + 1G > A

IVS30

–

not defined

44

40

paternal/30

normal

PKD1

c.12139-2A > T

IVS44

–

Putative TM region

24

34

maternal

normal

PKD2

c.2159dupA

11

p.Asn720Lysfs*5

–

42

29

maternal

normal

  1. REJ receptor for egg jelly; NA not available; athe age of the male patients seeking fertility advice from doctors; bthe age of the patients’ fathers fathering their last child; *translation termination codon