Following the publication of the original article [1], it was noted that due to a typesetting error the figure images for Figures 1-5 in the PDF version were not updated and an error was found in Table 1.
The correct Figs. 1, 2, 3, 4, 5 and Table 1 are shown below.
Fig. 1
Variants of FANCA in NOA16 and NOA50. A The families affected by the variants in FANCA. The red dotted lines indicate mutated positions in the Sanger sequencing results. B Testicular histopathology of NOA16. C The mutated positions of FANCA are conserved among species (red arrows). And the dotted lines indicate the positions of the FANCA variant in the FANCA protein. M, mutation; WT, wild type
Fig. 2
The variant of SYCE1 in NOA51. A The family affected by the variant in SYCE1. The red dotted line indicates the mutated position in the Sanger sequencing. B Testicular histopathology. C The mutated position of SYCE1 is conserved among species (red arrows). And the dotted line indicates the position of the SYCE1 variant in SYCE1 protein. M, mutation; WT, wild type
Fig. 3
Variants of DMRT1 in NOA22 and NOA25. A The families affected by the variants in DMRT1. The red arrows indicate mutated positions in the Sanger sequencing results. B Testicular histopathology. C The mutated positions of DMRT1 are conserved among species (red arrows). And the dotted line indicates the position of DMRT1 variants in DMRT1 protein. M, mutation; WT, wild type
Fig. 4
The variant of PLK4 in NOA42. A The family affected by the variant in PLK4. The red arrow indicates the mutated position in the Sanger sequencing results. B Testicular histopathology. C The mutated position of PLK4 is conserved among species (red arrows). And the dotted line indicates the position of PLK4 variant in PLK4 protein. S_TKC, Serine/Threonine protein kinases, catalytic domain; M, mutation; WT, wild type
Fig. 5
Variants of TEX11 in NOA39 and NOA49. A The families affected by the variants in TEX11. The red dotted line indicates mutated positions in the Sanger sequencing results. B Testicular histopathology. C The mutated positions of TEX11 are conserved among species (red arrows). And the dotted lines indicate the positions of TEX11 variants in TEX11 protein. M, mutation; WT, wild type
Table 1
Deleterious variants detected in patients with non-obstructive azoospermia and related clinical phenotypes.
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
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
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