ArticleJournal of assisted reproduction and genetics2022
Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
Article in Journal of assisted reproduction and genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Spontaneous natural conception and live birth in three patients with likely pathogenic variants in TUBB8, ZP2, and ZP3 associated with female subfertility.Journal of ovarian research · 2026Article
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- Case Report: Neo-homozygous nonsense mutation in NLRP5 associated with early embryonic arrest in two sisters from a Chinese family.Frontiers in reproductive health · 2026Article
- Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Journal of assisted reproduction and genetics · 2025Article
- Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.Molecular biology reports · 2025Review
- Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications.International journal of molecular sciences · 2024Review
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
- Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.Nature structural & molecular biology · 2024Article
- Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Journal of assisted reproduction and genetics · 2024Article
- Biallelic Recessive Mutations inHuman mutation · 2024Article
- Inflammasomes as regulators of non-infectious disease.Seminars in immunology · 2023Review
- High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.Frontiers in genetics · 2023Article
- Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.Human mutation · 2022Article
- Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.Frontiers in endocrinology · 2022Article
- Posttranslational Regulation of Inflammasomes, Its Potential as Biomarkers and in the Identification of Novel Drugs Targets.Frontiers in cell and developmental biology · 2022Review
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Authors and funding
9 authors.
Funding
Abstract
purposeThis study aims to identify the genetic causes of 12 women with primary infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
methodsGenomic DNA was isolated from peripheral blood samples. Whole-exome sequencing was performed on the probands, and the identified variants were confirmed by Sanger sequencing. The pathogenicity of the identified variants on the protein was accessed in silico. And we used qRT-PCR to detect the possible effects of the novel mutation on the mRNA level of NLRP5.
resultsA novel homozygous frameshift variant (p.V429Efs*30) in NLRP5 and compound heterozygous variants with a novel frameshift variant (p.A297Efs*20) and a recurrent variant (c. 223-14_223-2delCCCTCCTGTTCCA) in PATL2 were identified in two unrelated affected individuals. qRT-PCR showed an obvious decrease of the mutant NLRP5 mRNA. In addition, the truncated proteins of NLRP5 and PATL2 were predicted to be non-functional due to the deletion of the most or the whole region of the critical functional domain(s) respectively.
conclusionsThis study identified novel mutations in NLRP5 and PATL2, further expanding the mutational and phenotypic spectrum of both genes. This is the first report of the NLRP5 mutations that associates with oocyte maturation abnormality in humans.
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