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Open AccessArticle

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

1
Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy
2
MAGI EUREGIO, 39100 Bolzano, Italy
3
MAGI’S LAB, 38068 Rovereto, Italy
4
Department of Urology, “Sapienza” University of Rome, Policlinico Umberto I, 00185 Rome, Italy
5
Department of Surgical and Biomedical Sciences, University of Perugia, 06123 Perugia, Italy
6
EBTNA-LAB, Via delle Maioliche, 57/G, 38068 Rovereto, Italy
*
Author to whom correspondence should be addressed.
Life 2020, 10(10), 242; https://doi.org/10.3390/life10100242
Received: 21 September 2020 / Revised: 9 October 2020 / Accepted: 12 October 2020 / Published: 15 October 2020
Background: Up to 15% of couples are infertile and male factor infertility accounts for approximately 50% of these cases. Male infertility is a multifactorial pathological condition. The genetic of male infertility is very complex and at least 2000 genes are involved in its etiology. Genetic testing by next-generation sequencing (NGS) technologies can be relevant for its diagnostic value in male infertile patients. Therefore, the aim of this study was to implement the diagnostic offer with the use of an NGS panel for the identification of genetic variants. Methods: We developed an NGS gene panel that we used in 22 male infertile patients. The panel consisted of 110 genes exploring the genetic causes of male infertility; namely spermatogenesis failure due to single-gene mutations, central hypogonadism, androgen insensitivity syndrome, congenital hypopituitarism, and primary ciliary dyskinesia. Results: NGS and a subsequent sequencing of the positive pathogenic or likely pathogenic variants, 5 patients (23%) were found to have a molecular defect. In particular, pathogenic variants were identified in TEX11, CCDC39, CHD7, and NR5A1 genes. Moreover, 14 variants of unknown significance and 7 novel variants were found that require further functional studies and family segregation. Conclusion: This extended NGS-based diagnostic approach may represent a useful tool for the diagnosis of male infertility. The development of a custom-made gene panel by NGS seems capable of reducing the proportion of male idiopathic infertility. View Full-Text
Keywords: male infertility; NGS diagnosis; defects of primary spermatogenesis; hypogonadotropic hypogonadism; primary ciliary dyskinesia male infertility; NGS diagnosis; defects of primary spermatogenesis; hypogonadotropic hypogonadism; primary ciliary dyskinesia
MDPI and ACS Style

Cannarella, R.; Precone, V.; Guerri, G.; Busetto, G.M.; Di Renzo, G.C.; Gerli, S.; Manara, E.; Dautaj, A.; Bertelli, M.; Calogero, A.E. Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. Life 2020, 10, 242. https://doi.org/10.3390/life10100242

AMA Style

Cannarella R, Precone V, Guerri G, Busetto GM, Di Renzo GC, Gerli S, Manara E, Dautaj A, Bertelli M, Calogero AE. Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. Life. 2020; 10(10):242. https://doi.org/10.3390/life10100242

Chicago/Turabian Style

Cannarella, Rossella; Precone, Vincenza; Guerri, Giulia; Busetto, Gian M.; Di Renzo, Gian C.; Gerli, Sandro; Manara, Elena; Dautaj, Astrit; Bertelli, Matteo; Calogero, Aldo E. 2020. "Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing" Life 10, no. 10: 242. https://doi.org/10.3390/life10100242

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