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ACROSIN deficiency causes total fertilization failure in humans by preventing the sperm from penetrating the zona pellucida

22 Mar 2023

Abstract excerpt

STUDY QUESTION: Does a homozygous nonsense mutation in ACR lead to total fertilization failure (TFF) resulting in male infertility in humans? SUMMARY ANSWER: A novel homozygous nonsense mutation of ACR (c.167G>A, p.Trp56X) was identified in two infertile brothers and shown to cause human TFF. WHAT IS KNOWN ALREADY: ACROSIN, encoded by ACR, is a major acrosomal enzyme expressed only in the acrosome of the sperm...

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PMID: 37004249
DOI: 10.1093/humrep/dead059

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