Balkan Journal of Medical Genetics

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
page: 49

RESULTS

A total of 85 patients (85 males) between 21 years and 45 years old were included in the study group. NGS analysis had been applied in all the primary infertility cases. As a result of NGS analysis, 58 clinical variants in 28 genes were detected in 41 patients (%48,23- 41/85) (Table 1). Thirty-two of these variants are unknown clinical sig- nificance (VUS), 11 of them likely pathogenic, and 15 of these variants are classified as pathogenic in according to the Varsome, The Human Genomic Variant Search Engine, Franklin by Genoox, Clinvar and American College of Medical Genetics and Genomics (ACMG) databases. The most frequently observed variants are those ob- served in the CFTR gene. 18 CFTR gene variants were de- tected in 16 different patients. Among these, 7 variants are pathogenic, 4 variants are likely pathogenic and 7 variants are VUS. The remaining 40 variants are distributed among the other 27 genes in the panel. Among these, 8 variants were evaluated as pathogenic, 7 variants as likely pathogenic, and 25 variants as VUS. Segregation analyses could not be per- formed in patients with VUS. Pathogenic and likely patho- genic variants were detected de novo. Among the variants considered as VUS, the most frequently observed variants clustered in the DNAH1 gene. Among the pathogenic vari- ants, the most common variants after CFTR were detected in the CBS and F11 genes (Table 2). We also detected a compound heterozygous CFTR variant in one of our patients. This condition of the patient was evaluated clinically.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact