| H01282 | |
| H number | H01282 |
| Name | Spermatogenic failure |
| Description | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis. |
| Category | Reproductive system disease |
| Network | nt06530(H01282) PI3K signaling |
| Gene | (SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB04.Y ICD-10: N46 MeSH: C567832 C564030 OMIM: 258150 606766 270960 243060 102530 612997 613957 613958 614822 615081 615413 615841 615842 616950 617187 617214 617576 617592 617593 617644 617706 617707 617959 617960 617961 617965 618086 618091 618110 618112 618115 618152 618153 618341 618420 618429 618433 618643 618664 618670 618745 618751 619044 619094 619095 619102 619108 619144 619145 619177 619202 619258 619379 619380 619515 619528 619585 619645 619646 619672 619673 619689 619696 619712 619799 619803 619805 619826 619828 619831 619867 619878 619937 619949 620084 620103 620170 620196 620222 620277 620353 620354 620409 309120 301059 301077 301099 301101 301106 |
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JOURNAL J Med Genet 50:187-93 (2013) DOI:10.1136/jmedgenet-2012-101230 PMID:24431330 (SPGF13_14) AUTHORS Ayhan O, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A TITLE Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. JOURNAL J Med Genet 51:239-44 (2014) DOI:10.1136/jmedgenet-2013-102102 PMID:25899990 (SPGF15) AUTHORS Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A TITLE Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. JOURNAL J Assist Reprod Genet 32:887-91 (2015) DOI:10.1007/s10815-015-0445-y PMID:27640305 (SPGF16) AUTHORS Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, Zhang Z, He X, Zhou P, Wei Z, Gecz J, Cao Y TITLE Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. JOURNAL Am J Hum Genet 99:942-949 (2016) DOI:10.1016/j.ajhg.2016.08.004 PMID:26721930 (SPGF17) AUTHORS Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzene T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C TITLE Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. JOURNAL Hum Mol Genet 25:878-91 (2016) DOI:10.1093/hmg/ddv617 PMID:27798045 (SPGF18) AUTHORS Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzene T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF TITLE Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. JOURNAL Hum Reprod 31:2872-2880 (2016) DOI:10.1093/humrep/dew262 PMID:28552195 (SPGF19_20_40) AUTHORS Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F TITLE Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. JOURNAL Am J Hum Genet 100:854-864 (2017) DOI:10.1016/j.ajhg.2017.04.012 PMID:28199965 (SPGF21) AUTHORS Li L, Sha Y, Wang X, Li P, Wang J, Kee K, Wang B TITLE Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa. JOURNAL Oncotarget 8:19914-19922 (2017) DOI:10.18632/oncotarget.15251 PMID:28206990 (SPGF22_23) AUTHORS Gershoni M, Hauser R, Yogev L, Lehavi O, Azem F, Yavetz H, Pietrokovski S, Kleiman SE TITLE A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. JOURNAL Genet Med 19:998-1006 (2017) DOI:10.1038/gim.2016.225 PMID:29606301 (SPGF24) AUTHORS Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C TITLE Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse. JOURNAL Am J Hum Genet 102:636-648 (2018) DOI:10.1016/j.ajhg.2018.03.007 PMID:26199321 (SPGF25) AUTHORS Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S TITLE Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. JOURNAL Hum Mol Genet 24:5581-8 (2015) DOI:10.1093/hmg/ddv290 PMID:28905369 (SPGF26) AUTHORS Sha YW, Sha YK, Ji ZY, Mei LB, Ding L, Zhang Q, Qiu PP, Lin SB, Wang X, Li P, Xu X, Li L TITLE TSGA10 is a novel candidate gene associated with acephalic spermatozoa. JOURNAL Clin Genet 93:776-783 (2018) DOI:10.1111/cge.13140 PMID:29365104 (SPGF27) AUTHORS Lores P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Toure A TITLE Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. JOURNAL Hum Mol Genet 27:1196-1211 (2018) DOI:10.1093/hmg/ddy034 PMID:30075111 (SPGF28) AUTHORS Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB, Conrad DF, Laan M TITLE Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. JOURNAL Am J Hum Genet 103:200-212 (2018) DOI:10.1016/j.ajhg.2018.07.005 PMID:28554943 (SPGF29) AUTHORS Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Faure J, Bottari SP, Coutton C, Ray PF, Arnoult C TITLE SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. JOURNAL EMBO Mol Med 9:1132-1149 (2017) DOI:10.15252/emmm.201607461 PMID:28536242 (SPGF30) AUTHORS Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R TITLE Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. JOURNAL J Med Genet 54:633-639 (2017) DOI:10.1136/jmedgenet-2017-104514 PMID:30032984 (SPGF31) AUTHORS Zhu F, Liu C, Wang F, Yang X, Zhang J, Wu H, Zhang Z, He X, Zhang Z, Zhou P, Wei Z, Shang Y, Wang L, Zhang R, Ouyang YC, Sun QY, Cao Y, Li W TITLE Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. JOURNAL Am J Hum Genet 103:188-199 (2018) DOI:10.1016/j.ajhg.2018.06.010 PMID:20506135 (SPGF32) AUTHORS Choi Y, Jeon S, Choi M, Lee MH, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH TITLE Mutations in SOHLH1 gene associate with nonobstructive azoospermia. JOURNAL Hum Mutat 31:788-93 (2010) DOI:10.1002/humu.21264 PMID:30122540 (SPGF33) AUTHORS Kherraf ZE, Amiri-Yekta A, Dacheux D, Karaouzene T, Coutton C, Christou-Kent M, Martinez G, Landrein N, Le Tanno P, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Gourabi H, Robinson DR, Crouzy S, Blum M, Thierry-Mieg N, Toure A, Zouari R, Arnoult C, Bonhivers M, Ray PF TITLE A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. JOURNAL Am J Hum Genet 103:400-412 (2018) DOI:10.1016/j.ajhg.2018.07.014 PMID:30137358 (SPGF34) AUTHORS Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzene T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Toure A, Arnoult C, Ray PF, Coutton C TITLE Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. JOURNAL Hum Reprod 33:1973-1984 (2018) DOI:10.1093/humrep/dey264 PMID:30683861 (SPGF35) AUTHORS Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W TITLE Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. JOURNAL Nat Commun 10:433 (2019) DOI:10.1038/s41467-018-08182-x PMID:30893644 (SPGF36) AUTHORS Guran T, Yesil G, Turan S, Atay Z, Bozkurtlar E, Aghayev A, Gul S, Tinay I, Aru B, Arslan S, Koroglu MK, Ercan F, Demirel GY, Eren FS, Karademir B, Bereket A TITLE PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. JOURNAL Eur J Endocrinol 180:291-309 (2019) DOI:10.1530/EJE-19-0067 PMID:30929735 (SPGF37) AUTHORS Liu W, He X, Yang S, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y, Zhang F TITLE Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. JOURNAL Am J Hum Genet 104:738-748 (2019) DOI:10.1016/j.ajhg.2019.02.020 PMID:30686508 (SPGF38) AUTHORS Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Toure A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF TITLE Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. JOURNAL Am J Hum Genet 104:331-340 (2019) DOI:10.1016/j.ajhg.2018.12.013 PMID:31178125 (SPGF39) AUTHORS Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Toure A, Legendre M TITLE Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. JOURNAL Am J Hum Genet 105:198-212 (2019) DOI:10.1016/j.ajhg.2019.04.015 PMID:31621862 (SPGF41) AUTHORS Beurois J, Martinez G, Cazin C, Kherraf ZE, Amiri-Yekta A, Thierry-Mieg N, Bidart M, Petre G, Satre V, Brouillet S, Toure A, Arnoult C, Ray PF, Coutton C TITLE CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. JOURNAL Hum Reprod 34:2071-2079 (2019) DOI:10.1093/humrep/dez166 PMID:31735292 (SPGF42) AUTHORS Lores P, Dacheux D, Kherraf ZE, Nsota Mbango JF, Coutton C, Stouvenel L, Ialy-Radio C, Amiri-Yekta A, Whitfield M, Schmitt A, Cazin C, Givelet M, Ferreux L, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Daneshipour A, El Khouri E, Do Cruzeiro M, Favier M, Guillonneau F, Chaudhry M, Sakheli Z, Wolf JP, Patrat C, Gacon G, Savinov SN, Hosseini SH, Robinson DR, Zouari R, Ziyyat A, Arnoult C, Dulioust E, Bonhivers M, Ray PF, Toure A TITLE Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility. JOURNAL Am J Hum Genet 105:1148-1167 (2019) DOI:10.1016/j.ajhg.2019.10.007 PMID:31048344 (SPGF43) AUTHORS Liu C, Lv M, He X, Zhu Y, Amiri-Yekta A, Li W, Wu H, Kherraf ZE, Liu W, Zhang J, Tan Q, Tang S, Zhu YJ, Zhong Y, Li C, Tian S, Zhang Z, Jin L, Ray P, Zhang F, Cao Y TITLE Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. JOURNAL J Med Genet 57:31-37 (2020) DOI:10.1136/jmedgenet-2019-106011 PMID:31654588 (SPGF44) AUTHORS Sha Y, Wang X, Yuan J, Zhu X, Su Z, Zhang X, Xu X, Wei X TITLE Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype. JOURNAL Clin Genet 97:321-328 (2020) DOI:10.1111/cge.13662 PMID:30811583 (SPGF45) AUTHORS Li Y, Sha Y, Wang X, Ding L, Liu W, Ji Z, Mei L, Huang X, Lin S, Kong S, Lu J, Qin W, Zhang X, Zhuang J, Tang Y, Lu Z TITLE DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella. JOURNAL Clin Genet 95:590-600 (2019) DOI:10.1111/cge.13525 PMID:32619401 (SPGF46) AUTHORS Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Toure A, Zhang F, Ikawa M TITLE Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility. JOURNAL Am J Hum Genet 107:330-341 (2020) DOI:10.1016/j.ajhg.2020.06.004 PMID:32051257 (SPGF47) AUTHORS Lv M, Liu W, Chi W, Ni X, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X, Zhang F, Cao Y TITLE Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF. JOURNAL J Med Genet 57:445-453 (2020) DOI:10.1136/jmedgenet-2019-106479 PMID:32673564 (SPGF48) AUTHORS Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Woste M, Ledig S, Krenz H, Smits RM, Carvalho F, Goncalves J, Fietz D, Turkgenc B, Ergoren MC, Cetinkaya M, Basar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Ropke A, Dugas M, Kliesch S, Neuhaus N, Aston KI, Conrad DF, Veltman JA, Friedrich C, Tuttelmann F TITLE Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. JOURNAL Am J Hum Genet 107:342-351 (2020) DOI:10.1016/j.ajhg.2020.06.010 PMID:32791035 (SPGF49) AUTHORS He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y TITLE Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice. JOURNAL Am J Hum Genet 107:514-526 (2020) DOI:10.1016/j.ajhg.2020.07.010 PMID:30042186 (SPGF50) AUTHORS Yang Y, Guo J, Dai L, Zhu Y, Hu H, Tan L, Chen W, Liang D, He J, Tu M, Wang K, Wu L TITLE XRCC2 mutation causes meiotic arrest, azoospermia and infertility. JOURNAL J Med Genet 55:628-636 (2018) DOI:10.1136/jmedgenet-2017-105145 PMID:32161152 (SPGF51) AUTHORS Martinez G, Beurois J, Dacheux D, Cazin C, Bidart M, Kherraf ZE, Robinson DR, Satre V, Le Gac G, Ka C, Gourlaouen I, Fichou Y, Petre G, Dulioust E, Zouari R, Thierry-Mieg N, Toure A, Arnoult C, Bonhivers M, Ray P, Coutton C TITLE Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. JOURNAL J Med Genet 57:708-716 (2020) DOI:10.1136/jmedgenet-2019-106775 PMID:33508233 (SPGF52) AUTHORS Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q TITLE Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. JOURNAL Am J Hum Genet 108:324-336 (2021) DOI:10.1016/j.ajhg.2021.01.010 PMID:33626338 (SPGF53) AUTHORS Dai J, Zhang T, Guo J, Zhou Q, Gu Y, Zhang J, Hu L, Zong Y, Song J, Zhang S, Dai C, Gong F, Lu G, Zheng W, Lin G TITLE Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. JOURNAL Am J Hum Genet 108:469-481 (2021) DOI:10.1016/j.ajhg.2021.02.004 PMID:32503832 (SPGF54) AUTHORS Arafat M, Harlev A, Har-Vardi I, Levitas E, Priel T, Gershoni M, Searby C, Sheffield VC, Lunenfeld E, Parvari R TITLE Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics. JOURNAL J Med Genet jmedgenet-2019-106825 (2020) DOI:10.1136/jmedgenet-2019-106825 PMID:29690537 (SPGF55) AUTHORS Kazarian E, Son H, Sapao P, Li W, Zhang Z, Strauss JF, Teves ME TITLE SPAG17 Is Required for Male Germ Cell Differentiation and Fertility. JOURNAL Int J Mol Sci 19:E1252 (2018) DOI:10.3390/ijms19041252 PMID:34237282 (SPGF56) AUTHORS Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ TITLE Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. JOURNAL Am J Hum Genet 108:1466-1477 (2021) DOI:10.1016/j.ajhg.2021.06.010 PMID:34347949 (SPGF57) AUTHORS Nagirnaja L, Morup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jorgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K TITLE Variant PNLDC1, Defective piRNA Processing, and Azoospermia. JOURNAL N Engl J Med 385:707-719 (2021) DOI:10.1056/NEJMoa2028973 PMID:33689014 (SPGF58) AUTHORS Lores P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Toure A TITLE A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. JOURNAL Hum Genet 140:1031-1043 (2021) DOI:10.1007/s00439-021-02270-7 PMID:33211200 (SPGF59) AUTHORS Salas-Huetos A, Tuttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Woste M, Hotaling JM, Nagirnaja L, Conrad DF, Carrell DT, Aston KI TITLE Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. JOURNAL Hum Genet 140:217-227 (2021) DOI:10.1007/s00439-020-02236-1 PMID:32741963 (SPGF60_75) AUTHORS Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castane E, Aston KI, Baarends WM, Tuttelmann F TITLE Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. JOURNAL Genet Med 22:1956-1966 (2020) DOI:10.1038/s41436-020-0907-1 PMID:31125047 (SPGF61_ 62) AUTHORS Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castane E, Maggi M, Baarends WM, Krausz C TITLE Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. JOURNAL Hum Reprod 34:978-988 (2019) DOI:10.1093/humrep/dez042 PMID:32111475 (SPGF63) AUTHORS Tu C, Meng L, Nie H, Yuan S, Wang W, Du J, Lu G, Lin G, Tan YQ TITLE A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia. JOURNAL Fertil Steril 113:561-568 (2020) DOI:10.1016/j.fertnstert.2019.10.029 PMID:30878252 (SPGF64) AUTHORS Ma Y, Xie N, Xie D, Sun L, Li S, Li P, Li Y, Li J, Dong Z, Xie X TITLE A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family. JOURNAL Fertil Steril 111:909-917.e1 (2019) DOI:10.1016/j.fertnstert.2019.01.007 PMID:34932939 (SPGF65) AUTHORS Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ TITLE Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. JOURNAL Am J Hum Genet 109:157-171 (2022) DOI:10.1016/j.ajhg.2021.11.022 PMID:31985809 (SPGF66_67_68) AUTHORS Oud MS, Okutman O, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA TITLE Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. JOURNAL Hum Reprod 35:240-252 (2020) DOI:10.1093/humrep/dez246 PMID:33108537 (SPGF69) AUTHORS Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF TITLE Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. JOURNAL Hum Genet 140:43-57 (2021) DOI:10.1007/s00439-020-02229-0 PMID:29581481 (SPGF70) AUTHORS Yildirim Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A TITLE Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. JOURNAL Eur J Hum Genet 26:876-885 (2018) DOI:10.1038/s41431-018-0121-7 PMID:33713115 (SPGF71) AUTHORS Li Y, Wu Y, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X, Shi Q TITLE A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination. JOURNAL Hum Reprod 36:1436-1445 (2021) DOI:10.1093/humrep/deab046 PMID:32323121 (SPGF72) AUTHORS Ni X, Wang J, Lv M, Liu C, Zhong Y, Tian S, Wu H, Cheng H, Gao Y, Tan Q, Chen B, Li Q, Song B, Wei Z, Zhou P, He X, Zhang F, Cao Y TITLE A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia. JOURNAL J Assist Reprod Genet 37:1431-1439 (2020) DOI:10.1007/s10815-020-01770-1 PMID:35476666 (SPGF73) AUTHORS Li L, Tan YQ, Lu LY TITLE Defective piRNA Processing and Azoospermia. JOURNAL N Engl J Med 386:1675-1676 (2022) DOI:10.1056/NEJMc2116008 PMID:34755185 (SPGF74) AUTHORS Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meissner A, Kaminsky E, Woste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tuttelmann F TITLE Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. JOURNAL Hum Reprod 37:178-189 (2021) DOI:10.1093/humrep/deab230 PMID:34348960 (SPGF76) AUTHORS Cong J, Wang X, Amiri-Yekta A, Wang L, Kherraf ZE, Liu C, Cazin C, Tang S, Hosseini SH, Tian S, Daneshipour A, Wang J, Zhou Y, Zeng Y, Yang S, He X, Li J, Cao Y, Jin L, Ray PF, Zhang F TITLE Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice. JOURNAL J Med Genet 59:710-718 (2022) DOI:10.1136/jmedgenet-2021-107919 PMID:36150389 (SPGF77) AUTHORS Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tuttelmann F, van der Heijden GW TITLE The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans. JOURNAL Am J Hum Genet 109:1850-1866 (2022) DOI:10.1016/j.ajhg.2022.09.002 PMID:36321563 (SPGF78) AUTHORS Dai J, Li Q, Zhou Q, Zhang S, Chen J, Wang Y, Guo J, Gu Y, Gong F, Tan Y, Lu G, Zheng W, Lin G TITLE IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect. JOURNAL EMBO Mol Med 14:e16501 (2022) DOI:10.15252/emmm.202216501 PMID:34980136 (SPGF79) AUTHORS Lv M, Liu C, Ma C, Yu H, Shao Z, Gao Y, Liu Y, Wu H, Tang D, Tan Q, Zhang J, Li K, Xu C, Geng H, Zhang J, Li H, Mao X, Ge L, Fu F, Zhong K, Xu Y, Tao F, Zhou P, Wei Z, He X, Zhang F, Cao Y TITLE Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations. JOURNAL Reprod Biol Endocrinol 20:5 (2022) DOI:10.1186/s12958-021-00880-4 PMID:34169321 (SPGF80) AUTHORS Zhang J, He X, Wu H, Zhang X, Yang S, Liu C, Liu S, Hua R, Zhou S, Zhao S, Hu F, Zhang J, Liu W, Cheng H, Gao Y, Zhang F, Cao Y, Liu M TITLE Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. JOURNAL Hum Mol Genet 30:1996-2011 (2021) DOI:10.1093/hmg/ddab171 PMID:36708031 (SPGF81) AUTHORS Liu Y, Li Y, Meng L, Li K, Gao Y, Lv M, Guo R, Xu Y, Zhou P, Wei Z, He X, Cao Y, Wu H, Tan Y, Hua R TITLE Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility. JOURNAL Hum Mol Genet 32:1730-1740 (2023) DOI:10.1093/hmg/ddad013 PMID:35228300 (SPGF82) AUTHORS Liu C, Shen Y, Tang S, Wang J, Zhou Y, Tian S, Wu H, Cong J, He X, Jin L, Cao Y, Yang Y, Zhang F TITLE Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility. JOURNAL J Med Genet 60:137-143 (2023) DOI:10.1136/jmedgenet-2021-108271 PMID:36792588 (SPGF83) AUTHORS Wu H, Liu Y, Li Y, Li K, Xu C, Gao Y, Lv M, Guo R, Xu Y, Zhou P, Wei Z, Hua R, He X, Cao Y TITLE DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath. JOURNAL Cell Death Dis 14:127 (2023) DOI:10.1038/s41419-023-05653-y PMID:34792097 (SPGF84) AUTHORS Liu S, Zhang J, Kherraf ZE, Sun S, Zhang X, Cazin C, Coutton C, Zouari R, Zhao S, Hu F, Fourati Ben Mustapha S, Arnoult C, Ray PF, Liu M TITLE CFAP61 is required for sperm flagellum formation and male fertility in human and mouse. JOURNAL Development 148:dev199805 (2021) DOI:10.1242/dev.199805 PMID:25970010 (SPGFX2) AUTHORS Yatsenko AN, Georgiadis AP, Ropke A, Berman AJ, Jaffe T, Olszewska M, Westernstroer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tuttelmann F TITLE X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. JOURNAL N Engl J Med 372:2097-107 (2015) DOI:10.1056/NEJMoa1406192 PMID:33472045 (SPGFX3) AUTHORS Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Toure A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F TITLE Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. JOURNAL Am J Hum Genet 108:309-323 (2021) DOI:10.1016/j.ajhg.2021.01.002 PMID:33963445 (SPGFX4) AUTHORS Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieno-Enriquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tuttelmann F, Yatsenko AN TITLE Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. JOURNAL Hum Genet 140:1169-1182 (2021) DOI:10.1007/s00439-021-02287-y PMID:36796361 (SPGFX5) AUTHORS Liu C, Si W, Tu C, Tian S, He X, Wang S, Yang X, Yao C, Li C, Kherraf ZE, Ye M, Zhou Z, Ma Y, Gao Y, Li Y, Liu Q, Tang S, Wang J, Saiyin H, Zhao L, Yang L, Meng L, Chen B, Tang D, Zhou Y, Wu H, Lv M, Tan C, Lin G, Kong Q, Shi H, Su Z, Li Z, Yao YG, Jin L, Zheng P, Ray PF, Tan YQ, Cao Y, Zhang F TITLE Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models. JOURNAL Am J Hum Genet 110:516-530 (2023) DOI:10.1016/j.ajhg.2023.01.016 PMID:34202084 (SPGFX6) AUTHORS Liu C, Shen Y, Shen Q, Zhang W, Wang J, Tang S, Wu H, Tian S, Cong J, He X, Jin L, Zhang F, Jiang X, Cao Y TITLE Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility. JOURNAL Cells 10:cells10071594 (2021) DOI:10.3390/cells10071594 PMID:36481789 (SPGFX7) AUTHORS Zhang G, Jiang C, Yang Y, Wang Y, Zhou H, Dai S, Liu M, Yang Y, Yang L, Shen Q, Zhang T, Zhang X, Yang Y, Shen Y TITLE Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice. JOURNAL Cell Death Differ 30:500-514 (2023) DOI:10.1038/s41418-022-01098-6 |