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Table 6 Variants of TEX genes identified solely in males with azoospermia and/or infertility

From: Human testis-expressed (TEX) genes: a review focused on spermatogenesis and male fertility

TEX gene Study Nucleotide change Protein change Type of mutation Exon/intron Number of males with the alteration
TEX11 Krausz et al., 2020 [15] c.84_651del p.28del189aa deletion Exon 4–9 1
Cannarella et al., 2020 [16] c.776C → T p.Thr259Ile missense mutation Exon 9 1
c.2288 T → C p.Val763Ala missense mutation Exon 26 1
Sha et al., 2018 [17] c.2653G → T p.W856C missense mutation Exon 29 2 brothers
Nakamura et al., 2017 [18] c.511A → G p.Met171Val missense mutation Exon 8 1
Yatsenko et al., 2015 [19] c.450C → T p.A150A splicing mutation Exon 7 1
c.511A → G p.M171V missense mutation Exon 8 1
c.652del237bp p.218del79aa deletion Exons 10–12 2
c.792 + 1G → A p.L264spl d splicing mutation Intron 11 1
c.1837 + 1G → C p.R612spl d splicing mutation Intron 22 1
c.2092G → A p.A698T missense mutation Exon 25 1
Yang et al., 2015 [20] c.-17 T → C / intronic alteration Intron 3 1
c.-48G → A / intronic alteration Intron 5 1
c.349 T → A p.W117R missense mutation Exon 6 1
c.405C → T / silent mutation Exon 6 1
c.424G → A p.V142I missense mutation Exon 7 1
c.466A → G p.M152V missense mutation Exon 7 1
c.515A → G p.Q172R missense mutation Exon 7 1
c.731C → T p.T244I missense mutation Exon 10 1
c. + 42C → A / intronic alteration Intron 10 1
c.-28 T → C / intronic alteration Intron 12 1
c.-64G → A / intronic alteration Intron 15 1
c.1258Ins (TT) 1258GATG → TTGGTA frameshift mutation Exon 16 1
c. + 16A → G / intronic alteration Intron 20 1
c.-1G → A / alteration of splicing acceptor site Intron 21 1
c.-37A → G / intronic alteration Intron 22 1
c.-44C → T / intronic alteration Intron 23 1
c. + 119G → A / intronic alteration Intron 24 1
c.2243 T → C p.V748A missense mutation Exon 26 1
c.2319 T → C / silent mutation Exon 27 1
c.-55A → C / intronic alteration Intron 27 1
c.-44A → G / intronic alteration Intron 28 1
TEX14 Krausz et al., 2020 [15] c.(554 + 1_555–1)_(3378 + 1_3378–1)del p.185del941aa partial deletion Exon 6–21 1 compound heterozygote
c.2303_2306del p.Gln768ArgfsTer31 frameshift deletion Exon 14
c.3454C > T p.Arg1152Ter stop gain Exon 21 1
Araujo et al., 2019 [21] c.727C > G p.Gln243Glu missense mutation Exon 7 1 compound heterozygote
c.4297G > A p.Glu1433Lys missense mutation Exon 31
Fakhro et al., 2018 [22] c.C254A p.Arg85Leu missense mutation / 2 brothers
c.555-5 T > G / splice site mutation / 1
/ p.Ser1255fs frameshift mutation / 1
Gershoni et al., 2017 [23] c.2668-2678del early stop codon frameshift deletion Exon 16 2 brothers
TEX15 Cannarella et al., 2020 [16] c.7118G > A p.Ser2373Asn missense mutation Exon 8 1
Araujo et al., 2019 [21] c.7118G > A p.Ser2373Asn missense mutation Exon 8 1 compound heterozygote
c.9223G > A p.Gly3075Arg missense mutation Exon 10
Wang et al., 2018 [24] c.6934G > A p.R2312X nonsense mutation Exon 1 1
Colombo et al., 2017 [25] c.2419A > T p.Lys807* nonsense mutation Exon 8 2: brothers (compound heterozygotes)
c.3040delT p.Ser1014Leufs*5 deletion Exon 8
Okutman et al., 2015 [26] c.2130 T > G p.Y710* nonsense mutation Exon 1 3 brothers