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.
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
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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.
Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jedrzejczak P, Latos-Bielenska A, Kotecki M, Pawelczyk L, Jaruzelska J
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Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
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
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Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
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
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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
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
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Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.
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
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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.
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
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A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
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
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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
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
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Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
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
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PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
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
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Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
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
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
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
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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
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
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Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
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
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Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
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
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Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
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
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Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
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
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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
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
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Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
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
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
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
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Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
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
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Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
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
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Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
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
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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.
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
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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
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
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Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
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
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Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
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
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Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
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
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Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.
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
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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.
Fakhro KA, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores JL, Al-Shakaki A, Syed N, Mezey JG, Abi Khalil C, Malek JA, Al-Ansari A, Al Said S, Crystal RG
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Point-of-care whole-exome sequencing of idiopathic male infertility.
Ma A, Zhou J, Ali H, Abbas T, Ali I, Muhammad Z, Dil S, Chen J, Huang X, Ma H, Zhao D, Zhang B, Zhang Y, Shah W, Shah B, Murtaza G, Iqbal F, Khan MA, Khan A, Li Q, Xu B, Wu L, Zhang H, Shi Q
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Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Arafah K, Lopez F, Cazin C, Kherraf ZE, Tassistro V, Loundou A, Arnoult C, Thierry-Mieg N, Bulet P, Guichaoua MR, Ray PF
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Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report.
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
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X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
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
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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
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
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Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sanchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castane E, Azorin F, Veltman JA, Aston KI, Conrad DF, Tuttelmann F, Krausz C
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Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
