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Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice

10 Feb 2022

Abstract excerpt

STUDY QUESTION: Is a recurrent heterozygous mutation in ZP2, c.1925G>A (p.R642Q), associated with the Empty follicle syndrome (EFS)? SUMMARY ANSWER: ZP2, c.1925G>A (p.R642Q), led to female infertility related to EFS in humans and mice and resulted in ZP2 accumulation in the cytoplasm of oocytes. WHAT IS KNOWN ALREADY: EFS is a complex disease defined as a complete failure of oocyte retrieval after ovarian...

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PMID: 35211729
DOI: 10.1093/humrep/deac026

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