References:
  1. Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzene T, Le Tanno P, et al. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. Hum Reprod 2016; 31: 2872–80.
  2. Barthelemy C, Tharanne MJ, Lebos C, Lecomte P, Lansac J. Tail stump spermatozoa: morphogenesis of the defect. An ultrastructural study of sperm and testicular biopsy. Andrologia 1990; 22: 417–25.
  3. Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, 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: 95–104.
  4. Chemes HE, Brugo S, Zanchetti F, Carrere C, Lavieri JC. Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm Immotility and primary sterility. Fertil Steril. 1987;48:664–9.
  5. Chunyu Liu, Mingrong Lv. Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.Journalof Medical Genetics 57(1):jmedgenet-2019-10601
  6. Chunyu Liu,Haruhiko Miyata. Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.The American Journal of Human Genetics Volume 107, Issue 2, 6 August 2020, Pages 330-341.
  7. Clementine Wambergue, Raoudha Zouari.Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection。Human Reproduction, Vol.31, No.6 pp. 1164–1172, 2016
  8. Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, et al. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Commun 2018; 9: 686.
  9. Da´vila Garza SA, Patrizio P. Reproductive outcomes in patients with male infertility because of Klinefelter’s syndrome, Kartagener’s syndrome, round-head sperm, dysplasia fifibrous sheath, and ‘stump’ tail sperm: an updated literature review. Curr Opin Obstet Gynecol 2013;25:229 – 246.
  10. Deepa Talreja, Chirag Gupta.Oocyte Vitrification: A Comparative Analysis Between Fresh and Cryopreserved Oocytes in an Oocyte Donation Program. Fertility & Reproduction Vol.02,No.01,pp.9-13 (2020).
  11. Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, et al. Absence of CFAP69 causes male infertility due to multiple morphological abnormalities of the flagella in human and mouse. Am J Hum Genet 2018; 102: 636–48.
  12. Inaba K. Molecular basis of sperm flagellar axonemes: structural and evolutionary aspects. Ann N Y Acad Sci 2007; 1101: 506–26.
  13. Lores P, Coutton C, El Khouri E, Stouvenel L, Givelet M, et al. 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.Hum Mol Genet 2018; 27: 1196–211.
  14. Mariem Ben Khelifa. Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella.The American Journal of Human Genetics 94, 95–104, January 2, 2014
  15. Mitchell V,Rives N,Albert M.Outcome of ICSI with ejaculated spermatozoa in a seried of men with distinct ultrastructural flagellar abnormalities.Hum Reprod 2006;21:2065-2074
  16. Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., et al. (2004). Primary ciliary dyskinesia: diagnostic and phenotypic features. Am. J. Respir. Crit. Care Med. 169, 459–467. doi: 10.1164/rccm.200303- 365OC
  17. Nsota Mbango et al.Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum .Basic and Clinical Andrology (2019) 29:2
  18. R Azambuja, M Badalotti.Successful birth after injection of frozen human oocytes with frozen epididymal spermatozoa. Reproductive BioMedicine Online.Vol 11. No 4. 2005 449–451
  19. Robert I. McLachlan, M.D.,Tomomoto Ishikawa, Ph.D.Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails.Fertility and Sterility Vol. 97, No. 2, February 2012 0015-0282
  20. Sha YW, Xu X, Mei LB, Li P, Su ZY, et al. A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).Gene 2017; 633: 48–53.
  21. Sha, Y., Wei, X., Ding, L. et al. Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. J Hum Genet (2020). https://doi.org/10.1038/s10038-020-0790-2
  22. Shen‑Min Yang, Hai‑Bo Li . Morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China.Asian Journal of Andrology (2015) 17, 513–515
  23. Shenmin Yang,Liang Gao.Successful intracytoplasmic sperm injection with testicular spermatozoa from a man with multiple morphological abnormalities of the sperm flagella: a case report. Assist Reprod Genet (2018) 35:247–250
  24. Sil flflow, C. D. & Lefebvre, P. A. Assembly and motility of eukaryotic cilia and flflagella. Lessons from Chlamydomonas reinhardtii. Plant Physiol. 127, 1500–1507 (2001).
  25. Stalf T, Sanchez R, Kohn FM, Schalles U, Kleinstein J, Hinz V, et al. Pregnancy and birth after intracytoplasmic sperm injection with spermatozoa from a patient with tail stump syndrome. Hum Reprod. 1995;10:2112–4.
  26. Tao Huang,Yingying Yin. Absence of murine CFAP61 causes male infertility due to multiple morphological abnormalities of the flagella.Science Bulletin Volume 65, Issue 10, 30 May 2020, Pages 854-864.
  27. Turner RM, Musse MP, Mandal A, Klotz K, Jayes FC, et al. Molecular genetic analysis of two human sperm fibrous sheath proteins, AKAP4 and AKAP3, in men with dysplasia of the fibrous sheath. J Androl 2001; 22: 302–15.
  28. Wei-Li Wang, Chao-Feng Tu. Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?.Asian Journal of Andrology (2020) 22, 236–245
  29. XiaoliWang, YouhengWei. Tssk4 is essential for maintaining the structural integrity of sperm flagellum.Molecular Human Reproduction, Vol.21, No.2 pp. 136–145, 2015
  30. Yanwei Sha,Xiaoli Wei,Lu Ding.DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella. Human Genetics Volume84, Issue3, May 2020, Pages 271-279
  31. Ying Shen, Feng Zhang . Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.Nature Communications.2019 Jan 25;10(1):433.doi: 10.1038/s41467-018-08182-x.