Table 3 Additional recessive damaging variants in nonobstructive azoospermia (NOA) genes discovered in idiopathic cohort sequenced at the point of care

Study population	Gene panel source ^a	Subject ID ^b	Gene symbol	Predicted effect on protein ^c	No. individuals ^d (%)
Nonobstructive azoospermia (n = 75)	Current study	I042	TEX14	p.Ser1255fs
	Current study	I060	TEX14	Splice (c.556-5A>C)
	Current study	I074	NANOS2	p.Met1?	4 (5%)
	Current study	I030	WNK3	p.Glu913Lys^e
	Previous	I064	TEX11	p.Ile118Ser
	Previous	I065	UTP14C	p.Pro547Ser
	Previous	I181	ART3	p.Cys256fs
	Previous	I018	AR	p.Ser176Arg
	Previous	I011	FKBP6	Splice (c.893+4A>G)	6 (9%)
	Previous	I071	XRCC1	p.Glu512Gln
					Total 10 (13.3%)
Fertile men (n = 74)	N/A	N/A	N/A	N/A	0 (0%)
	N/A	N/A	N/A	N/A	Total 0 (0%)

Candidate deleterious variants in 62 NOA genes detected in idiopathic NOA cohort and fertile controls. Denoted in each cohort is the individual harboring candidate pathogenic variant(s), including the altered gene and the exact amino acid alteration.
^aSource of gene selected for targeted variant discovery. Current study includes 5 candidate genes discovered from familial cohort. Previous studies contain 57 genes in which point mutations or exonic deletions are found in azoospermic men (see Supplementary Tables S11, S12 online for all genes tested).
^bSubject ID divided by two groups: idiopathic (I) NOA (see Supplementary Tables S3, S6 online for clinical details and sequencing metrics for these individuals); fertile men (F; see Supplementary Tables S4, S7 online for fecundity details and sequencing metrics for these individuals).
^cPredicted effect is displayed in Human Genome Variation Society format. Amino acid alterations are displayed in p. notation whereas splice variants are in c. notation.
^dTally of number of individuals with deleterious variants in each gene panel, as well as percentage of total.
^eThis variant is hemizygous, as WNK3 is on the X chromosome.

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