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Next-Generation Sequencing Infertility Panel in Turkey: First Results Cover

Next-Generation Sequencing Infertility Panel in Turkey: First Results

Open Access
|Mar 2025

References

  1. Hotaling J, Carrell DT. Clinical genetic testing for male factor infertility: current applications and future directions. Andrology (2014) 2:339–50. doi: <a href="https://doi.org/10.1111/j.2047-2927.2014.00200.x" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1111/j.2047-2927.2014.00200.x</a>
  2. Cariati F, D’Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med (2019) 17:267. doi: <a href="https://doi.org/10.1186/s12967-019-2019-8" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1186/s12967-019-2019-8</a>
  3. Robay A, Abbasi S, Akil A, El-Bardisi H, ArafaM, Crystal RG, et al. A systematic review on the genetics of male infertility in the era of next-generation sequencing. Arab J Urol (2018) 16:53–64. doi: <a href="https://doi.org/10.1016/j.aju.2017.12.003" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.aju.2017.12.003</a>
  4. https://omim.org/.
  5. World Health Organization. WHO Laboratory manual for the examination and processing of human semen. Geneva: World Health Organization (2010).
  6. Güney A, Javadova D, Kırac D, Ulucan K, Arafa G, Ergec D, et al. Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients. Genet Mol Res (2012) 11(2):1039–48. doi: <a href="https://doi.org/10.4238/2012.April.27.2" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.4238/2012.April.27.2</a>
  7. Stouffs K, Seneca S, Lissens W. Genetic causes of male infertility. Ann d’endocrinol (2014) 75(2):109– 11. doi: <a href="https://doi.org/10.1016/j.ando.2014.03.004" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.ando.2014.03.004</a>
  8. Bracke A, Peeters K, Punjabi U, Hoogewijs D, Dewil de S. A search for molecular mechanisms underlying male idiopathic infertility. Reprod BioMed Online (2018) 36:327–39. doi: <a href="https://doi.org/10.1016/j.rbmo.2017.12.005" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.rbmo.2017.12.005</a>
  9. Patel B, Parets S, Akana M, Kellogg G, Jansen M, Chang C, et al. Comprehensive genetic testing for female and male infertility using nextgeneration sequencing. J Assist Reprod Genet (2018) 35:1489–96. doi: <a href="https://doi.org/10.1007/s10815-018-1204-7" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1007/s10815-018-1204-7</a>
  10. Lorenzi D, Fernández C, Bilinski M, Fabbro M, Galain M, Menazzi S, et al. First custom next-generation sequencing infertility panel in Latin America: design and first results. JBRA Assist Reprod (2020) 24:104–14. doi: <a href="https://doi.org/10.5935/1518-0557.20190065" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.5935/1518-0557.20190065</a>
  11. Zorrilla M, Yatsenko AN. The Genetics of Infertility: Current Status of the Field. Curr Genet Med Rep (2013) 1(4). doi: <a href="https://doi.org/10.1007/s40142-013-0027-1" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1007/s40142-013-0027-1</a>
  12. Mallepaly R, Butler PR, Herati AS, Lamb DJ. Genetic basis of male and female infertility. Monogr Hum Genet (2017) 21:1–16. doi: <a href="https://doi.org/10.1159/000477275" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1159/000477275</a>
  13. Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod (2019) 5:932–41. doi: <a href="https://doi.org/10.1093/humrep/dez022" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1093/humrep/dez022</a>
  14. 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 (2015) 17:405. doi: <a href="https://doi.org/10.1038/gim.2015.30" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1038/gim.2015.30</a>
  15. 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;94:95–104.
  16. Coutton C, Arnoult C, Ray PF. Commentary on ‘‘Morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China.’’ Asian J Androl 2016;18:812.
  17. Imtiaz F, Allam R, Ramzan K, Al-Sayed M. Variation in DNAH1 may contribute to primary ciliary dyskinesia. BMC Med Genet 2015;16:14.
  18. Wambergue C, Zouari R, Fourati ben Mustapha S, Martinez G, Devillard F, Hennebicq S, et al. Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection. HumReprod 2016;31:1164–72.
  19. Bobadilla, J. L., Macek, M., Jr., Fine, J. P., &amp; Farrell, P. M. (2002). Cystic fibrosis: A worldwide analysis of CFTR mutations–correlation with incidence data and application to screening. Human Mutation, 19(6), 575–606. https ://doi.org/<a href="https://doi.org/10.1002/humu.10041" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1002/humu.10041</a>
  20. Chillón, M., Casals, T., Mercier, B., Bassas, L., Lis-sens, W., Silber, S., Estivill, X. (1995). Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New England Journal of Medicine, 332(22), 1475–1480. <a href="https://doi.org/10.1056/NEJM1" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1056/NEJM1</a> 99506 01332 2204
  21. Claustres, M. (2005). Molecular pathology of the CFTR locus in male infertility. Reprod Biomed Online, 10(1), 14–41. <a href="https://doi.org/10.1016/S1472-6483(10)60801-2" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1016/S1472-6483(10)60801-2</a>
  22. Jiang, L., Jin, J., Wang, S., Zhang, F., Dai, Y., Shi, L., &amp; Zhang, S. (2017). CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study. Gene, 626, 282–289. <a href="https://doi.org/10.1016/j.gene.2017.04.044" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1016/j.gene.2017.04.044</a>
  23. Nuño-Ayala M, Guillén N, Arnal C, Lou-Bonafonte JM, de Martino A, García-de-Jalón JA, et al. Cystathionine β-synthase deficiency causes infertility by impairing decidualization and gene expression networks in uterus implantation sites. Physiol Genomics. 2012; 44(14): 702-716.
  24. Akbarian F, Tavalaee M, Dattilio M, Nasr-Esfahani MH. Down-regulated expression of cystathionine β-synthase and cystathionine γ-lyase in varicocele, and infertile men: a case-control study. Cell J. 2022; 24(4): 176-181. doi: <a href="https://doi.org/10.22074/cellj.2022.7775." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.22074/cellj.2022.7775.</a>
  25. Meijers, J. C., Tekelenburg, W. L., Bouma, B. N., Bertina, R. M., &amp; Rosendaal, F. R. (2000). High levels of coagulation factor XI as a risk factor for venous thrombosis. The New England journal of medicine, 342(10), 696–701. <a href="https://doi.org/10.1056/NEJM200003093421004" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1056/NEJM200003093421004</a>
  26. Spiezia, L.; Forestan, C.; Campello, E.; Simion, C.; Si-mioni, P. Persistently High Levels of Coagulation Factor XI as a Risk Factor for Venous Thrombosis. J. Clin. Med. 2023, 12, 4890. <a href="https://doi.org/10.3390/jcm12154890" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.3390/jcm12154890</a>
  27. Pastuszak AW, Sigalos JT, Lipshultz LI. The role of the urologist in the era of in vitro fertilization-intracytoplasmic sperm injection. Urology (2017) 103:19– doi: <a href="https://doi.org/10.1016/j.urology.2016.12.025" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.urology.2016.12.025</a>
  28. Mehta A, Nangia AK, Dupree JM, Smith JF. Limitations and barriers in Access to care for male factor infertility. Fertil Steril (2016) 105:1128–37. doi: <a href="https://doi.org/10.1016/j.fertnstert.2016.03.023" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.fertnstert.2016.03.023</a>
  29. Salonia A, Matloob R, Gallina A, Abdollah F, Saccà A, Briganti A, et al. are infertile men less healthy than fertile men? Results of a prospective casecontrol survey. Eur Urol (2009) 56:1025–31. doi: <a href="https://doi.org/10.1016/j." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.</a> eururo. 2009.03.001
  30. Eisenberg ML, Li S, Behr B, Cullen MR, Galusha D, Lamb DJ, et al. Semen quality, infertility and mortality in the USA. Hum Reprod (2014) 2:91567–74. doi: <a href="https://doi.org/10.1093/humrep/deu106" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1093/humrep/deu106</a>
Language: English
Page range: 49 - 57
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 E Ikbal Atli, S Yalcintepe, E Atli, S Demir, H Gurkan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.