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 |