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Table 4 The assisted reproductive therapies used by the 35 male patients and the clinical outcomes of those therapies

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

Gene

cDNA change

Amino acid change

Family No.

Semen analysis

Treatment methods

PKD1

c.856_862delTCTGGCC

p.Ser286Serfs*2

30

oligoasthenozoospermia

ICSI+PGD

PKD1

c.1385G>T

p.Arg462Met

77

asthenozoospermia

ICSI+PGD

PKD1

c.2527 T > C

p.Ser843Pro

45

oligoasthenozoospermia

ICSI+PGD

PKD1

c.7126C > T

p.Gln2376*

PKD1

c.2670 + 1G > A

–

19

asthenozoospermia

ICSI+PGDa

PKD1

c.4447C > T

p.Gln1483*

13

oligoasthenozoospermia

ICSI+PGDa

PKD1

c.4551C > A

p.Tyr1517*

39

asthenozoospermia

natural pregnant

PKD1

c.4609G > T

p.Glu1537*

31

asthenozoospermia

ICSI+PGD

PKD1

c.6199C > T

p.Gln2067*

34

oligoasthenozoospermia

natural pregnant

PKD1

c.6658C>T

p.Arg2220Trp

85

oligoasthenozoospermia

ICSI+PGD

PKD1

c.6704C>T

p.Ser2235Leu

70

asthenozoospermia

ICSI+PGD

PKD1

c.7863 + 1G > C

–

36

oligoasthenozoospermia

ICSI+PGD

PKD1

c.7863 + 2 T > G

–

11

asthenozoospermia

ICSI+PGD

PKD1

c.10529C > T

p.Thr3510Met

PKD1

c.7915C > T

p.Arg2639*

54

asthenozoospermia

ICSI+PGD

PKD1

c.7973_7974delTG

p.Val2658Glyfs*2

9

asthenozoospermia

ICSI

PKD1

c.10529C > T

p.Thr3510Met

PKD1

c.8744A > G

p.Asn2915Ser

28

oligoasthenozoospermia

ICSI+PGDa

PKD1

c.12570_12571insCTCC

p.Ser4190Serfs*21

PKD1

c.9666_9667delGA

p.Glu3222Aspfs*30

32

oligoasthenozoospermia

ICSI+PGDa

PKD1

c.10220 + 2 T > C

–

3

oligoasthenozoospermia

ICSI+PGDa

PKD1

c.12053C > T

p.Thr4018Ile

PKD1

c.10524_10525delAG

p.Glu3509Aspfs*117

2

oligoasthenozoospermia

ICSI+PGD

PKD1

c.10896_10897delGA

p.Ser3633Profs*88

5

oligoasthenozoospermia

ICSI+PGDa

PKD1

c.10937 T>G

p.Val3646Gly

68

asthenozoospermia

ICSI+PGD

PKD1

c.11240delC

p.Pro3747Hisfs*79

33

oligoasthenozoospermia

ICSI+PGDa

PKD1

c.11538-2A > G

–

18

oligoasthenozoospermia

ICSI+PGD

PKD1

c.11699_11700ins10

p.Leu3901Alafs*63

22

asthenozoospermia

ICSI+PGD

PKD1

c.11830_11838dup

p.Leu3944_Ala3946dup

52

oligoasthenozoospermia

ICSI+PGD

PKD1

c.11945A>C

p.Gln3982Pro

78

asthenozoospermia

ICSI+PGD

PKD1

c.12712C > T

p.Gln4238*

46

asthenozoospermia

ICSI+PGD

PKD1

c.1198C > T

p.Arg400*

17

normal

ICSI+PGD

PKD1

c.5600A > G

p.Asn1867Ser

PKD1

c.3931G>A

p.Ala1311Thr

80

normal

ICSI

PKD1

c.2039A > T

p.Tyr680Phe

20

normal

ICSI+PGDa

PKD1

c.5637C > G

p.Tyr1879*

PKD1

c.4273C > T

p.Arg1425Cys

15

normal

ICSI+PGDa

PKD1

c.8750C > T

p.Ala2917Val

PKD1

c.11512C > T

p.Gln3838*

PKD1

c.6813_6814delAC

p.Arg2272Glyfs*147

7

normal

ICSI+PGD

PKD1

c.7144A>C

p.Ser2382Arg

67

normal

ICSI+PGD

PKD1

c.10050 + 1G > A

–

44

normal

ICSI+PGD

PKD1

c.12139-2A > T

–

24

normal

ICSI+PGD

PKD2

c.2159dupA

p.Asn720Lysfs*5

42

normal

ICSI+PGD

  1. ICSI intracytoplasmic sperm injection, ICSI+PGD ICSI combined preimplantation genetic diagnosis, athe treatment cycle is currently incomplete, *translation termination codon