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Next-generation sequencing:toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure

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Asian Journal of Andrology 2021年第1期23卷 24-29页

作者： Rossella Cannarella Rosita A Condorelli Stefano Paolacci Federica Barbagallo giulia guerri Matteo Bertelli Sandro La Vignera Aldo E Calogero Department of Clinical and Experimental Medicine University of CataniaCatania 95123Italy MAGI EUREGIO Bolzano 39100Italy

A large proportion of patients with idiopathic spermatogenic failure(SPGF;oligozoospermia or nonobstructive azoospermia[NOA])do not receive a diagnosis despite an extensive diagnostic *** evidence has shown that the etiology remains undefined in up to 75%of these patients.A number of genes involved in germ-cell proliferation,spermatocyte meiotic divisions,and spermatid development have been called into play in the pathogenesis of idiopathic oligozoospermia or ***,this evidence mainly comes from case ***,this study was undertaken to identify the molecular causes of *** accomplish this,15 genes(USP9Y,NR5A1,KLHL10,ZMYND15,PLK4,TEX15,TEX11,MEIOB,SOHLH1,HSF2,SYCP3,TAF4B,NANOS1,SYCE1,and RHOXF2)involved in idiopathic SPGF were simultaneously analyzed in a cohort of 25 patients with idiopathic oligozoospermia or NOA,accurately selected after a thorough diagnostic *** next-generation sequencing(NGS)analysis,we identified the presence of rare variants in the NR5A1 and TEX11 genes with a pathogenic role in 3/25(12.0%)*** other different variants were identified,and among them,13 have never been reported *** out of 17 variants were likely pathogenic and deserve functional or segregation *** genes most frequently mutated were MEIOB,followed by USP9Y,KLHL10,NR5A1,and *** alterations were found in the SYCP3,TAF4B,NANOS1,SYCE1,or RH0XF2 *** conclusion,NGS technology,by screening a specific custom-made panel of genes,could help increase the diagnostic rate in patients with idiopathic oligozoospermia or NOA.

关键词： azoospermia next-generation sequencing oligozoospermia spermatogenetic failure

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