ArticleClinical genetics2022
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Pooled it
- Molecular mechanisms of folliculogenesis and oogenesis.Systems biology in reproductive medicine · 2026Review
- A recurrent North African ZP1 variant and a literature review of genotype-phenotype correlations in ZP-related infertility.Journal of assisted reproduction and genetics · 2026Review
- Assessment indicators of ovarian response during controlled ovarian stimulation: influencing factors and clinical value.Frontiers in endocrinology · 2026Review
- Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications.International journal of molecular sciences · 2024Review
- Article
- Article
- High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.Frontiers in genetics · 2023Article
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.Clinical genetics · 2022Article
- The Fate of Zona free Oocyte Following Intracytoplasmic Sperm Injection: A Case Report and Review of Literature.Journal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A female factor is present in approximately 70% of couple infertility, often due to ovulatory disorders. In oocyte maturation defect (OMD), affected patients have a primary infertility with normal menstrual cycles but produce no oocyte, degenerated (atretic) or abnormal oocytes blocked at different stages of maturation. Four genes have so far been associated with OMD: PATL2, TUBB8, WEE2, and ZP1. In our initial study, 6 out of 23 OMD subjects were shown to carry the same PATL2 homozygous loss of function variant and one patient had a TUBB8 truncating variant. Here, we included four additional OMD patients and reanalyzed all 27 subjects. In addition to the seven patients with a previously identified defect, five carried the same deleterious homozygous ZP1 variant (c.1097G>A; p.Arg366Gln). All the oocytes from ZP1-associated patients appeared shriveled and dark indicating that the abnormal ZP1 protein induced oocyte death and degeneration. Overall ZP1-associated patients had degenerated or absent oocytes contrary to PATL2-associated subjects who had immature oocytes blocked mainly at the germinal vesicle stage. In this cohort of North African OMD patients, whole exome sequencing permitted to diagnose 44% of the patients studied and to identify a new frequent ZP1 variant.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.