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

Correction: Reprod Biol Endocrinol 20, 63 (2022)

https://doi.org/10.1186/s12958-022-00936-z

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

The original article [1] has been corrected.