ArticleAmerican journal of human genetics2017
A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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64 citing papers in PubMed, 130 citations in OpenAlex.
- Pathogenicity assessment of genetic variants in reproductive disorders.Journal of assisted reproduction and genetics · 2026Review
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- Zona pellucida is required for oocyte actin cortex and oocyte-somatic cell interactions during oocyte growth.Cell death discovery · 2026Article
- Novel missense variants in COX15 cause oocyte degeneration and female infertility.Journal of assisted reproduction and genetics · 2026Article
- Genetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep.Animal biotechnology · 2025Article
- Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.Journal of translational medicine · 2025Article
- Abnormal zona pellucida and follicular development inZoological research · 2025Article
- A novel mutation in ZP3 causes human ovulatory dysfunction and oocyte maturation arrest.Journal of ovarian research · 2025Article
- Infertile females with biallelic mutations in APC/C genes are characterized by oocyte or early embryo defects.Journal of assisted reproduction and genetics · 2025Article
- A Compound Heterozygous Pathogenic Variant in ZP2 Gene Causes Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome.Journal of ovarian research · 2025Article
- Review
- Novel Loss-of-function Variants of ZP3 Associated with Premature Ovarian Insufficiency.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Cellular mechanisms of monozygotic twinning: clues from assisted reproduction.Human reproduction update · 2024Review
- True empty follicle syndrome is a subtype of oocyte maturation abnormalities.Turkish journal of obstetrics and gynecology · 2024Article
- ZP2: the precision regulator of egg coat architecture during fertilization.Science China. Life sciences · 2024Article
- Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024Article
- Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- TENT5-mediated polyadenylation of mRNAs encoding secreted proteins is essential for gametogenesis in mice.Nature communications · 2024Article
4 more citing papers are in PubMed but not listed here.
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11 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Empty follicle syndrome (EFS) is defined as the failure to aspirate oocytes from mature ovarian follicles during in vitro fertilization. Except for some cases caused by pharmacological or iatrogenic problems, the etiology of EFS remains enigmatic. In the present study, we describe a large family with a dominant inheritance pattern of female infertility characterized by recurrent EFS. Genome-wide linkage analyses and whole-exome sequencing revealed a paternally transmitted heterozygous missense mutation of c.400 G>A (p.Ala134Thr) in zona pellucida glycoprotein 3 (ZP3). The same mutation was identified in an unrelated EFS pedigree. Haplotype analysis revealed that the disease allele of these two families came from different origins. Furthermore, in a cohort of 21 cases of EFS, two were also found to have the ZP3 c.400 G>A mutation. Immunofluorescence and histological analysis indicated that the oocytes of the EFS female had degenerated and lacked the zona pellucida (ZP). ZP3 is a major component of the ZP filament. When mutant ZP3 was co-expressed with wild-type ZP3, the interaction between wild-type ZP3 and ZP2 was markedly decreased as a result of the binding of wild-type ZP3 and mutant ZP3, via dominant negative inhibition. As a result, the assembly of ZP was impeded and the communication between cumulus cells and the oocyte was prevented, resulting in oocyte degeneration. These results identified a genetic basis for EFS and oocyte degeneration and, moreover, might pave the way for genetic diagnosis of infertile females with this phenotype.
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