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Table 1 Deleterious variants detected in patients with non-obstructive azoospermia and related clinical phenotypes.

From: Correction: Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia

Individual

NOA16

NOA50

NOA51

NOA22

NOA25

NOA42

NOA39

NOA49

Gene

FANCA

FANCA

SYCE1

DMRT1

DMRT1

PLK4

TEX11

TEX11

Inheritance pattern

AR

AR

AR

AD

AD

AD

X-linked

X-linked

RefSeq accession number

NM_000135

NM_000135

NM_001143763

NM_021951

NM_021951

NM_001190799

NM_031276

NM_031276

Age

27

27

31

27

31

29

32

25

Secondary sexual characteristics

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

testicular volume (Left/Right, ml)

8/8

8/8

15/15

10/10

10/10

12/12

12/12

10/10

Somatic karyotype

46,XY

46,XY

46,XY

46,XY

46,XY

46,XY

46,XY

46,XY

Y Chromosome microdeletions

No

No

No

No

No

No

No

No

Follicle-stimulating hormone (IU/L)

23.87

24.74

3.85

16.32

26.54

29.24

8.44

4.02

Luteinizing hormone (IU/L)

6.10

9.38

0.41

6.44

11.35

7.05

6.33

5.33

Testosterone (nmol/L)

14.03

9.64

31.14

17.95

7.07

10.75

10.75

13.34

Estradiol (pmol/L)

NA

90

372

241

23

73

97

132

Prolactin (ng/ml)

NA

8.26

14.6

11.88

10.37

8.11

8.92

10.24

Testis histology

SCOS

ND

MA

SCOS

SCOS

SCOS

Hypospermatogenesis

MA

Hom/Het

Hom

Het/ Het

Hom

Het

Het

Het

Hemi

Hemi

cDNA mutation

c.3263C>T

c.3263C>T/ c.1729C>G

c.689_690del

c.425C>T

c.340G>A

c.2785A>G

c.466A>G

c.559_560del

Mutation type

Missence

Missence/ Missense

Frameshift

Missense

Missense

Missense

Missense

Frameshift

Protein alteration

p.S1088F

p.S1088F/ p.P577A

p.F230fs

p.A142V

p.V114M

p.M929V

p.M156V

p.M187fs

1KGP

0.0218

0.0218/ 0

0

0

0

0

0

0

EXAC_EAS

0.0235

0.0235/ 0

0

0

0

0

0.0039

0

gnomAD_EAS

0.0265

0.0265/ 0

0.0001

0

0

0

0.0034

0

SIFT

D

D/ D

NA

T

D

D

T

NA

PolyPhen-2

P

P/ D

NA

D

D

P

B

NA

MutationTaster

N

N/ D

NA

D

D

D

N

NA

CADD

21.8

21.8/ 23.9

NA

22.2

33

23.9

22.2

NA

HGMD

NA

NA/ NA

NA

NA

NA

NA

D

NA

Validation in patient

Yes

Yes/ Yes

Yes

Yes

Yes

Yes

Yes

Yes

Mother/Father genotype

Het/Het

ND/ ND

ND/Het

ND

ND

ND

Het/WT

ND

  1. AR autosomal recessive, AD autosomal dominant, 1KGP 1000 Genomes Project, ExAc_EAS the data of East Asian in Exome Aggregation Consortium, gnomAD_EAS the data of East Asian in the Genome Aggregation Database, D Damaging, T Tolerant, P Possibly Damaging, B Benign, N Polymorphism, ND Not Detect, SCOS Sertoli cell only syndrome, MA maturation arrest