NEXT-GENERATION SEQUENCING INFERTILITY PANEL IN TURKEY: FIRST RESULTS
Ikbal Atli E1*, Yalcintepe S1, Atli E1, Demir S1, Gurkan H1
*Corresponding Author: Corresponding Author: Associate Prof. Emine Ikbal Atli, Trakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey Balkan Campus, Highway D100 ORCID ID: 0000- 0001-9003-1449; Postal code: 22030; Phone: 0(284) 235-76-41/2330; Email: emine.ikbal@gmail.com / eikbalatli@trakya.edu.tr
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REFERENCES

1. Hotaling J, Carrell DT. Clinical genetic testing for male factor infertility: current applications and fu- ture directions. Andrology (2014) 2:339–50. doi: 10.1111/j.2047-2927.2014.00200.x 2. Cariati F, D’Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med (2019) 17:267. doi: 10.1186/s12967- 019-2019-8 3. Robay A, Abbasi S, Akil A, El-Bardisi H, ArafaM, Crystal RG, et al. A systematic review on the genet- ics of male infertility in the era of next-generation sequencing. Arab J Urol (2018) 16:53–64. doi: 10.1016/j.aju.2017.12.003 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 mi- crodeletions and mitochondrial DNA mutations in male infertility patients. Genet Mol Res (2012) 11(2):1039–48. doi: 10.4238/ 2012.April.27.2 7. Stouffs K, Seneca S, Lissens W. Genetic causes of male infertility. Ann d’endocrinol (2014) 75(2):109– 11. doi: 10.1016/j.ando.2014.03.004 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: 10.1016/j.rbmo.2017.12.005 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 se- quencing. J Assist Reprod Genet (2018) 35:1489–96. doi: 10.1007/s10815-018-1204-7 10. Lorenzi D, Fernández C, Bilinski M, Fabbro M, Galain M, Menazzi S, et al. First custom next-gen- eration sequencing infertility panel in Latin America: design and first results. JBRA Assist Reprod (2020) 24:104–14. doi: 10.5935/ 1518-0557.20190065 11. Zorrilla M, Yatsenko AN. The Genetics of Infertil- ity: Current Status of the Field. Curr Genet Med Rep (2013) 1(4). doi: 10.1007/s40142-013-0027-1 12. Mallepaly R, Butler PR, Herati AS, Lamb DJ. Genetic basis of male and female infertility. Monogr Hum Genet (2017) 21:1–16. doi: 10.1159/000477275 13. Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA. A systematic review and standardized clinical validity assessment of male in- fertility genes. Hum Reprod (2019) 5:932–41. doi: 10.1093/humrep/dez022 14. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier- Foster J, et al. Standards and guidelines for the in- terpretation of sequence variants: a joint consensus recommendation of the American College of Medi- cal Genetics and Genomics and the Association for Molecular Pathology. Genet Med (2015) 17:405. doi: 10.1038/gim.2015.30 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 ab- normalities of the sperm flagella. Am J Hum Genet 2014;94:95–104. 16. Coutton C, Arnoult C, Ray PF. Commentary on ‘‘Mor- phological 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. Varia- tion 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 injec- tion. HumReprod 2016;31:1164–72. 19. Bobadilla, J. L., Macek, M., Jr., Fine, J. P., & 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/10.1002/humu.10041 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 Jour- nal of Medicine, 332(22), 1475–1480. https ://doi. org/10.1056/NEJM1 99506 01332 2204 21. Claustres, M. (2005). Molecular pathology of the CFTR locus in male infertility. Reprod Biomed On- line, 10(1), 14–41. https ://doi.org/10.1016/ S1472- 6483(10)60801-2 22. Jiang, L., Jin, J., Wang, S., Zhang, F., Dai, Y., Shi, L., & Zhang, S. (2017). CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study. Gene, 626, 282–289. https ://doi.org/10.1016/j.gene.2017.04.044 23. Nuño-Ayala M, Guillén N, Arnal C, Lou-Bonafonte JM, de Martino A, García-de-Jalón JA, et al. Cysta- thionine β-synthase deficiency causes infertility by impairing decidualization and gene expression net- works 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: 10.22074/cellj.2022.7775. 25. Meijers, J. C., Tekelenburg, W. L., Bouma, B. N., Bertina, R. M., & 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. https://doi.org/10.1056/ NEJM200003093421004 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. https://doi.org/10.3390/jcm12154890 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: 10.1016/j.urology.2016.12.025 28. Mehta A, Nangia AK, Dupree JM, Smith JF. Limi- tations and barriers in Access to care for male fac- tor infertility. Fertil Steril (2016) 105:1128–37. doi: 10.1016/j.fertnstert.2016.03.023 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: 10.1016/j. eururo. 2009.03.001 30. Eisenberg ML, Li S, Behr B, Cullen MR, Galusha D, Lamb DJ, et al. Semen quality, infertility and mortal- ity in the USA. Hum Reprod (2014) 2:91567–74. doi: 10.1093/humrep/deu106



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