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Pathogenesis of acephalic spermatozoa syndrome caused by SUN5 variant

10 Apr 2021

Abstract excerpt

Acephalic spermatozoa syndrome (ASS) is a rare teratozoospermia that leads to male infertility. Previous work suggested a genetic origin. Variants of Sad1 and UNC84 domain containing 5 (SUN5) are the main genetic cause of ASS; however, its pathogenesis remains unclear. Here, we performed whole-exome sequencing in 10 unrelated ASS and identified 2 homozygous variants, c.381delA[p.V128Sfs7*] and c.675C>A[p.Y225X],...

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PMID: 33848337
DOI: 10.1093/molehr/gaab028

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