Evidence map›Paper›PMID 40830301›Full record

ArticleJournal of assisted reproduction and genetics2025

Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.

Siyuan Xie, Meiling Zhang, Fengyan Wu, Ran Yu, Jing Fu, Rong Shi, Qiaoli Li, Biaobang Chen, Juanzi Shi, Tianyu Wu and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of assisted reproduction and genetics, 2025. 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
  2. Review
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

15 authors.

Siyuan XieInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Meiling ZhangInternational Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Fengyan WuReproductive Medical Center, Affiliated Hospital of Chifeng University, Chifeng, 024005, Inner Mongolia Autonomous Region, China.
Ran YuInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Jing FuShanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
Rong ShiAssisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, 710003, China.
Qiaoli LiInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Biaobang ChenInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Juanzi ShiAssisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, 710003, China.
Tianyu WuInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Xiaoxi SunShanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
Qing SangInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Lei WangInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Weijie WangInternational Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. wangweijie0816@126.com.
Jian MuInstitute of Pediatrics, The Institutes of Biomedical Sciences, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China. mj_439@sina.com.ORCID http://orcid.org/0000-0001-6923-6415

Funding

Fund of Fudan University and Cao'ejiang Basic Research 24FCB01National Key Research and Development Program of China 2024YFC2706600National Natural Science Foundation of China 32130029National Natural Science Foundation of China 82171644National Natural Science Foundation of China 82288102National Natural Science Foundation of China 82325021National Natural Science Foundation of China 82371663National Natural Science Foundation of China 82422033National Natural Science Foundation of China 82471885
6 · The paper itself

Abstract

purposeTo identify the disease-causing gene behind infertile couples with female infertility and abnormal fertilization.

methodsWhole-exome sequencing and Sanger sequencing were used to identify variants in disease-causing genes in 119 infertile couples with abnormal fertilization. Molecular modeling and functional analysis were used to evaluate the pathogenic effects of the variants.

resultsWe identified one homozygous ASTL variant and three homozygous WEE2 variants from four affected individuals. Among them, WEE2 variants c.1006

conclusionsWe identified novel homozygous variants in ASTL and WEE2, and functional analysis confirmed the pathogenicity of these variants. In addition, ICSI-AOA rescued the polyspermy phenotype in patients with ASTL c.643G > A (p.Glu215Lys) variant. Our findings further reveal the important role of ASTL and WEE2 in female reproduction and expand the mutational spectrum of the abnormal fertilization related genes ASTL and WEE2.

Indexed as

Cell Cycle ProteinsFertilizationInfertility, FemaleProtein-Tyrosine KinasesAdultExome SequencingFemaleFertilization in VitroHomozygoteHumansMaleMutationOocytesSperm Injections, IntracytoplasmicCell Cycle ProteinsProtein-Tyrosine KinasesWee2 protein, humanAbnormal fertilizationASTLFemale infertilityVariantWEE2

Identifiers

PMID40830301
PMCPMC12640295

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.