Agarwal A, Baskaran S, Parekh N, Cho C-L, Henkel R, Vij S, et al. Male infertility. The Lancet. 2021;397(10271):319–33. https://doi.org/10.1016/s0140-6736(20)32667-2.

Article  Google Scholar 

Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF. Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update. 2015;21(4):455–85. https://doi.org/10.1093/humupd/dmv020.

Article  CAS  PubMed  Google Scholar 

Ben Khelifa M, Coutton C, Zouari R, Karaouzene T, Rendu J, Bidart M, et al. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet. 2014;94(1):95–104. https://doi.org/10.1016/j.ajhg.2013.11.017.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Touré A, Martinez G, Kherraf Z-E, Cazin C, Beurois J, Arnoult C, et al. The genetic architecture of morphological abnormalities of the sperm tail. Hum Genet. 2020;140(1):21–42. https://doi.org/10.1007/s00439-020-02113-x.

Article  CAS  PubMed  Google Scholar 

Wang WL, Tu CF, Tan YQ. Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new? Asian journal of andrology. 2020;22(3):236–45. https://doi.org/10.4103/aja.aja_53_19.

Article  CAS  PubMed  Google Scholar 

Amiri-Yekta A, Coutton C, Kherraf Z-E, Karaouzène T, Le Tanno P, Sanati MH, et al. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations. Hum Reprod. 2016;31(12):2872–80. https://doi.org/10.1093/humrep/dew262.

Article  CAS  PubMed  Google Scholar 

Coutton C, Vargas AS, Amiri-Yekta A, Kherraf Z-E, Ben Mustapha SF, Le Tanno P, et al. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nature Communications 2018;9(1) https://doi.org/10.1038/s41467-017-02792-7.

Wang W, Tu C, Nie H, Meng L, Li Y, Yuan S, et al. Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. J Med Genet. 2019;56(11):750–7. https://doi.org/10.1136/jmedgenet-2019-106031.

Article  CAS  PubMed  Google Scholar 

Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, et al. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021;108(8):1466–77. https://doi.org/10.1016/j.ajhg.2021.06.010.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu W, He X, Yang S, Zouari R, Wang J, Wu H, et al. Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and mice. Am J Hum Genet. 2019;104(4):738–48. https://doi.org/10.1016/j.ajhg.2019.02.020.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lorès P, Dacheux D, Kherraf Z-E, Nsota Mbango J-F, Coutton C, Stouvenel L, et al. Mutations in TTC29, encoding an evolutionarily conserved axonemal protein, result in asthenozoospermia and male infertility. Am J Hum Genet. 2019;105(6):1148–67. https://doi.org/10.1016/j.ajhg.2019.10.007.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coates JC. Armadillo repeat proteins: beyond the animal kingdom. Trends Cell Biol. 2003;13(9):463–71. https://doi.org/10.1016/s0962-8924(03)00167-3.

Article  CAS  PubMed  Google Scholar 

Tewari R, Bailes E, Bunting KA, Coates JC. Armadillo-repeat protein functions: questions for little creatures. Trends Cell Biol. 2010;20(8):470–81. https://doi.org/10.1016/j.tcb.2010.05.003.

Article  CAS  PubMed  Google Scholar 

Peifer M, Berg S, Reynolds AB. A repeating amino acid motif shared by proteins with diverse cellular roles. Cell. 1994;76(5):789–91. https://doi.org/10.1016/0092-8674(94)90353-0.

Article  CAS  PubMed  Google Scholar 

Coutton C, Martinez G, Kherraf Z-E, Amiri-Yekta A, Boguenet M, Saut A, et al. Bi-allelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations in humans and mice. Am J Hum Genet. 2019;104(2):331–40. https://doi.org/10.1016/j.ajhg.2018.12.013.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khan I, Dil S, Zhang H, Zhang B, Khan T, Zeb A, et al. A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella. Reprod Biomed Online. 2021;43(5):913–9. https://doi.org/10.1016/j.rbmo.2021.07.021.

Article  CAS  PubMed  Google Scholar 

Wang J, Liu X, Zhang C, Xu Y, Wang W, Li H, et al. Patient with multiple morphological abnormalities of sperm flagella caused by a novel ARMC2 mutation has a favorable pregnancy outcome from intracytoplasmic sperm injection. J Assist Reprod Genet. 2022;39(7):1673–81. https://doi.org/10.1007/s10815-022-02516-x.

Article  PubMed  PubMed Central  Google Scholar 

Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, et al. Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. Hum reprod 2018;33(10):1973–84. https://doi.org/10.1093/humrep/dey264.

Wang Y, Yang J, Jia Y, Xiong C, Meng T, Guan H, et al. Variability in the morphologic assessment of human sperm: use of the strict criteria recommended by the World Health Organization in 2010. Fertil Steril. 2014;101(4):945–9. https://doi.org/10.1016/j.fertnstert.2013.12.047.

Article  PubMed  Google Scholar 

Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, et al. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Am J Hum Genet. 2021;108(2):309–23. https://doi.org/10.1016/j.ajhg.2021.01.002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, et al. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021;108(8):1466–77. https://doi.org/10.1016/j.ajhg.2021.06.010.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang G, Li D, Tu C, Meng L, Tan Y, Ji Z, et al. Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development. Hum Mol Genet. 2021;31(2):219–31. https://doi.org/10.1093/hmg/ddab234.

Article  CAS  PubMed  Google Scholar 

UniProt Consortium T. UniProt: the universal protein knowledgebase. Nucleic Acids Res. 2018;46(5):2699. https://doi.org/10.1093/nar/gky092.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med: J Am Coll Med Genet. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30.

Article  Google Scholar 

Gerstein MB, Kundaje A, Hariharan M, Landt SG, Yan KK, Cheng C, et al. Architecture of the human regulatory network derived from ENCODE data. Nature. 2012;489(7414):91–100. https://doi.org/10.1038/nature11245.

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Lizio M, Harshbarger J, Abugessaisa I, Noguchi S, Kondo A, Severin J, et al. Update of the FANTOM web resource: high resolution transcriptome of diverse cell types in mammals. Nucleic Acids Res. 2017;45(D1):D737–43. https://doi.org/10.1093/nar/gkw995.

Article  CAS  PubMed  Google Scholar 

Zhang Z, Sapiro R, Kapfhamer D, Bucan M, Bray J, Chennathukuzhi V, et al. A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas PF16. Mol Cell Biol. 2002;22(22):7993–8004. https://doi.org/10.1128/MCB.22.22.7993-8004.2002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tan C, Meng L, Lv M, He X, Sha Y, Tang D, et al. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2022;109(1):157–71. https://doi.org/10.1016/j.ajhg.2021.11.022.

Article  CAS  PubMed  Google Scholar