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Novel PLCZ1 compound heterozygous mutations indicate gene dosage effect involved in total fertilisation failure after ICSI.

Reproduction (Cambridge, England) - 1 Oct 2024

Li Qing, Guo Juncen, Huang Gelin, Wu Nan, Chen Su, Dai Jing, Zhang Xueguang, Zhang Guohui, Zhi Weiwei, Yan Jierui, Zheng Rui, Yan Fei, Yan Zheng, Wu Ling, Wu Sixian, Ji Zhiliang, Zeng Jiuzhi, Lin Ge, Li Bin, Xu Wenming

Abstract excerpt

In brief: PLCZ1 mutations are related to total fertilisation failure (TFF) after intracytoplasmic sperm injection (ICSI), characterised by abnormal oocyte oscillations. The novel PLCZ1 compound heterozygous mutations reported by this study were associated with TFF after ICSI, with one of the mutations indicating a gene dosage effect. Abstract: Oocyte activation failure is thought to be one of the main factors for...

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Identifiers

PMID: 39042720
DOI: 10.1530/REP-23-0466
PMCID: PMC11466203

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