Evidence map›Paper›PMID 41275460›Full record

ArticleJournal of assisted reproduction and genetics2026

Novel variants in PABPC1L cause female infertility due to oocyte maturation defects.

Zhiqi Pan, Zhiqi Ye, Hongjuan Ye, Biaobang Chen, Jian Mu, Zhihua Zhang, Qiaoli Li, Yanping Kuang, Lei Wang, Qing Sang and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Zhiqi PanInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Zhiqi YeInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Hongjuan YeThe Shanghai Towako Hospital, Shanghai, China.
Biaobang ChenNHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Jian MuInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Zhihua ZhangInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Qiaoli LiInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Yanping KuangThe Shanghai Towako Hospital, Shanghai, China.
Lei WangInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Qing SangInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Yichun GuanDepartment of Reproductive Medicine, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China. lisamayguan@163.com.
Weijie WangInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. wangweijie0816@126.com.

Funding

National Natural Science Foundation of China 82201829National Natural Science Foundation of China 82288102National Natural Science Foundation of China 82325021the Fund of Fudan University and Cao'ejiang Basic Research 24FCB01
6 · The paper itself

Abstract

purposeOocyte maturation defects are one of the common clinical phenotypes contributing to recurrent IVF/ICSI failures and female infertility. We aimed to identify novel pathogenic variants responsible for oocyte maturation defects.

methodsWhole-exome sequencing and in silico analysis were used to identify variants in disease-causing genes in a cohort of 442 female infertility patients with oocyte maturation defects. In vitro functional studies were performed to validate the destructive effects and pathogenicity of the novel variants.

resultsWe identified five novel PABPC1L variants (c.280C > A (p.Arg94Ser), c.283A > T (p.Lys95*), c.611A > G (p.Glu204Gly), c.583G > T (p.Val195Leu), and c.691C > T (p.Arg231Trp)) in two independent infertile families. These variants followed an autosomal recessive inheritance pattern. Western blotting analysis confirmed that all the novel variants led to the downregulation of PABPC1L protein expression in HEK293T cells. Immunofluorescence results showed that the nonsense variant c.283A > T (p.Lys95*) altered the cytoplasmic localization of PABPC1L in HeLa cells. In addition, three-dimensional molecular modeling and cycloheximide chase assay indicated that all four missense variants impair the stability of the PABPC1L protein.

conclusionOur findings expand the mutational spectrum of the pathogenic gene PABPC1L, further highlight its essential function in female reproduction, and provide new support for the genetic diagnosis of female infertility.

Indexed as

Infertility, FemaleOocytesOogenesisPoly(A)-Binding Protein IAdultExome SequencingFemaleHEK293 CellsHeLa CellsHumansMutation, MissensePedigreePoly(A)-Binding Protein IFemale infertilityMendelian diseaseOocyte maturation defectsPABPC1LVariant

Identifiers

PMID41275460
PMCPMC12901776

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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.