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Journal of Assisted Reproduction and Genetics
Erschienen in: Journal of Assisted Reproduction and Genetics 4/2020

03.04.2020 | Technological Innovations

Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment

verfasst von: Maria Santa Rocca, Aichi Msaki, Marco Ghezzi, Ilaria Cosci, Kalliopi Pilichou, Rudy Celeghin, Carlo Foresta, Alberto Ferlin

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 4/2020

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Abstract

Purpose

To develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis.

Methods

A total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel including AR, FSHB, FSHR, KLHL10, NR5A1, NANOS1, SEPT12, SYCP3, TEX11 genes. Variants with minor allele frequency < 1% were confirmed by Sanger sequencing.

Results

Nineteen missense variants were detected in 23 subjects with abnormal sperm count, whilst no variants were identified in normozoospermic men. Of identified variants, we prioritized variants classified as pathogenic and of uncertain significance (VUS) (63.1%, 12/19). No missense variants were found in males with normal seminal parameters (0/67). Therefore, the prevalence of variants was significantly higher in patients with spermatogenic impairment (16/174 vs 0/67, p = 0.007).

Conclusion

This study confirms the utility to apply NGS panel for infertility diagnosis in order to find new genetic variants potentially linked to male infertility with much higher accuracy than standard tests suggested by guidelines. Indeed, based on biological significance, prevalence in the general population and clinical data of patients, it is plausible that identified variants in this study might be linked to quantitative spermatogenic impairment, although further studies are needed.
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Metadaten
Titel
Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment
verfasst von
Maria Santa Rocca
Aichi Msaki
Marco Ghezzi
Ilaria Cosci
Kalliopi Pilichou
Rudy Celeghin
Carlo Foresta
Alberto Ferlin
Publikationsdatum
03.04.2020
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 4/2020
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-020-01747-0

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