Novel mutations in ZP2 and ZP3 cause female infertility in three patients

Article Pathology

Mutations in ZP4 are associated with abnormal zona pellucida and female infertility

Xiaoli Wei et al.

Summary: The study identified ZP4 as a novel gene associated with abnormal ZP in humans, and found that lower suction pressure and ICSI are effective treatment strategies for ZP4-mutated patients with abnormal ZP.

JOURNAL OF CLINICAL PATHOLOGY (2022)

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Article Obstetrics & Gynecology

The relationship between a novel evaluation parameter of premature luteinization and IVF outcomes

Meng Wang et al.

Summary: Comparing PLGC group and control group, it was found that PLGC had negative effects on oocyte quality and embryo development. Factors positively associated with PLGC occurrence include gonadotrophin duration, estradiol, and progesterone on HCG day, while gonadotrophin dosage is negatively related.

REPRODUCTIVE BIOMEDICINE ONLINE (2021)

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Article Obstetrics & Gynecology

The critical role of ZP genes in female infertility characterized by empty follicle syndrome and oocyte degeneration

Ping Yang et al.

Summary: Novel variants of ZP genes were identified in over half of the cohort with GEFS and oocyte degeneration, causing intracellular protein sequestration and failure to assemble ZP filaments, resulting in EFS and female infertility.

FERTILITY AND STERILITY (2021)

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Article Genetics & Heredity

A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility

Yiming Sun et al.

Summary: This study identified a novel pathogenic variant in ZP2 that may cause thin ZP and female infertility. The variant affects the assembly of ZP2-ZP3 dimers, and further experimental results confirmed this mechanism of action.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

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Article Genetics & Heredity

A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome

Jing Wang et al.

Summary: A novel homozygous nonsense mutation in ZP1 was identified in a family with female infertility characterized by EFS. Bioinformatics analysis predicted the mutation to be pathogenic, resulting in a truncated ZP1 protein that is localized in the cytoplasm of degenerated oocyte. This study expands the genetic spectrum for EFS and helps justify the EFS diagnosis in patients.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

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Review Cell Biology

Human Zona Pellucida Glycoproteins: Binding Characteristics With Human Spermatozoa and Induction of Acrosome Reaction

Satish Kumar Gupta

Summary: The human zona pellucida matrix consists of four glycoproteins, with ZP2 playing a key role in sperm-oocyte binding. Research indicates that N-linked glycosylation and protein-protein interactions are crucial in human gamete interaction.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Review Biochemistry & Molecular Biology

New Insights into the Mammalian Egg Zona Pellucida

Carla Moros-Nicolas et al.

Summary: The zona pellucida (ZP) is a ancient extracellular matrix surrounding mammalian oocytes and embryos, preventing polyspermy and protecting the embryo. Studies have shown differences in ZP composition among different mammalian species, likely due to molecular evolution of the ZP gene family. Interactions with other proteins in the oviductal lumen may play different roles in different mammalian species.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Genetics & Heredity

Case Report: A Novel Heterozygous ZP3 Deletion Associated With Empty Follicle Syndrome and Abnormal Follicular Development

Yongzhe Chen et al.

Summary: A novel heterozygous deletion in ZP3 was identified in an EFS patient, leading to significant degradation of the ZP3 protein. Abnormal follicular development and ZP assembly were observed in the EFS patient, providing new insights into the pathogenesis of EFS.

FRONTIERS IN GENETICS (2021)

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Review Environmental Sciences

Empty Zona Pellucida Only Case: A Critical Review of the Literature

Charalampos Siristatidis et al.

Summary: The presence of empty zona pellucida (EZP) in oocytes during in vitro fertilization (IVF) cycles poses challenges in assisted reproduction, with factors such as damage during oocyte retrieval and apoptosis within the zona pellucida implicated. There is limited data on managing EZP, highlighting the need for further research and clinical discussion on treatment options.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)

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Article Genetics & Heredity

A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation

Dazhi Zhang et al.

Summary: The study aimed to identify disease-causing genes related to female infertility, and a novel mutation in the ZP3 gene was identified in a Chinese family. This mutation was found to affect the interactions between ZP3 and ZP2, expanding the mutational and phenotypical spectrum of the ZP3 gene.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

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Article Biotechnology & Applied Microbiology

A novel UBE2A mutation in a Chinese family with X-linked intellectual disability

Weimin Jia et al.

JOURNAL OF GENE MEDICINE (2020)

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Article Genetics & Heredity

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

Ozlem Okutman et al.

GENES (2020)

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Article Genetics & Heredity

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

Qianhua Xu et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2020)

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Article Biochemistry & Molecular Biology

Zona Pellucida Proteins, Fibrils, and Matrix

Eveline S. Litscher et al.

Annual Review of Biochemistry (2020)

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Article Genetics & Heredity

Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome

Mohan Liu et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

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Article Cell Biology

Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human

Qiqi Cao et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2020)

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Article Genetics & Heredity

Novel mutations inZP1andZP2cause primary infertility due to empty follicle syndrome and abnormal zona pellucida

Geng Luo et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

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Article Cell Biology

Role of diagnostic intracytoplasmic sperm injection (ICSI) in the management of genetically determined zona pellucida-free oocytes during in vitro fertilization: a case report

Ahmad Metwalley et al.

ZYGOTE (2020)

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Article Genetics & Heredity

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility

Can Dai et al.

GENETICS IN MEDICINE (2019)

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Article Genetics & Heredity

Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation

Zhou Zhou et al.

HUMAN GENETICS (2019)

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Article Genetics & Heredity

Novel mutation in the ZP1 gene and clinical implications

Ping Yuan et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2019)

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Article Genetics & Heredity

Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters

Ling Sun et al.

HUMAN MUTATION (2019)

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Article Obstetrics & Gynecology

Novel zona pellucida gene variants identified in patients with oocyte anomalies

Ping Yang et al.

FERTILITY AND STERILITY (2017)

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Article Obstetrics & Gynecology

The International Glossary on Infertility and Fertility Care, 2017

Fernando Zegers-Hochschild et al.

FERTILITY AND STERILITY (2017)

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Letter Genetics & Heredity

ZP2 heterozygous mutation in an infertile woman

Sandrine Barbaux et al.

HUMAN GENETICS (2017)

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Letter Genetics & Heredity

Additive-effect pattern of both ZP2 and ZP3 in human and mouse

Wenqiang Liu et al.

HUMAN GENETICS (2017)

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Article Genetics & Heredity

Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility

Wenqiang Liu et al.

HUMAN GENETICS (2017)

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Article Genetics & Heredity

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility

Tailai Chen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

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Article Reproductive Biology

Oocyte zona pellucida dysmorphology is associated with diminished in-vitro fertilization success

May-Tal Sauerbrun-Cutler et al.

JOURNAL OF OVARIAN RESEARCH (2015)

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Article Medicine, General & Internal

Mutant ZP1 in Familial Infertility

Hua-Lin Huang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

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Review Reproductive Biology

A Structural View of Egg Coat Architecture and Function in Fertilization

Magnus Monne et al.

BIOLOGY OF REPRODUCTION (2011)

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Article Obstetrics & Gynecology

World Health Organization reference values for human semen characteristics

Trevor G. Cooper et al.

HUMAN REPRODUCTION UPDATE (2010)

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Article Endocrinology & Metabolism

'ZP domain' of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis

Anasua Ganguly et al.

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2010)

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Article Obstetrics & Gynecology

Cracking the egg:: increased complexity in the zona pellucida

SJ Conner et al.

HUMAN REPRODUCTION (2005)

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Article Obstetrics & Gynecology

Four zona pellucida glycoproteins are expressed in the human

L Lefièvre et al.

HUMAN REPRODUCTION (2004)

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Novel mutations in ZP2 and ZP3 cause female infertility in three patients

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