ArticleReproductive health2022
A novel homozygous mutation in the PADI6 gene causes early embryo arrest.
Article in Reproductive health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 16 citations in OpenAlex.
- Quantitative proteomic analysis of pathological and physiological ovarian aging: model evaluation, molecular mechanisms, and identification of early biomarkers and therapeutic targets.Journal of ovarian research · 2025Article
- ESHRE's key research priorities in infertility: maximizing impact on science, people and society†.Human reproduction (Oxford, England) · 2025Article
- The Mammalian Oocyte: A Central Hub for Cellular Reprogramming and Stemness.Stem cells and cloning : advances and applications · 2025Review
- A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.Journal of assisted reproduction and genetics · 2024Article
- Novel variants in PADI6 genes cause female infertility due to early embryo arrest.Journal of assisted reproduction and genetics · 2024Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- The first mitotic division: a perilous bridge connecting the zygote and the early embryo.Human reproduction (Oxford, England) · 2023Article
- Take your mother's ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport.The Journal of clinical investigation · 2023Article
- Review
- A complex heterozygous mutation inFrontiers in genetics · 2022Article
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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
backgroundIt has been proved that mutations in the PADI6 gene can cause early embryo arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic spectrum of early embryo arrest.
methodsPeripheral blood of a patient diagnosed with early embryo arrest was collected for whole-exome sequencing. Sanger sequencing was performed to confirm this mutation. The effects of the variant were investigated in human embryonic kidney 293T (HEK293T) cells using western blotting, real-time quantitative polymerase chain reaction, and immunofluorescence.
resultsA novel homozygous mutation in PADI6 was identified in the proband. The patient carried a frameshift insertion mutation c.558dupA (p.Thr187Asnfs*48), which was located in the protein arginine deiminase middle domain. The variant destroyed PADI6 protein expression and reduced PADI6 mRNA expression in HEK293T cells.
conclusionsThe newly identified mutation in PADI6 accounts for early embryo arrest. It expands the spectrum of genetic causes and phenotypes of infertility in humans. These findings also provide an additional possible diagnostic marker for patients with recurrent in vitro fertilization/intracytoplasmic sperm injection failure.
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