Evidence map›Paper›PMID 40515469›Full record

ReviewMolecular genetics & genomic medicine2025

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

Wencong Yao, Bocheng Xu, Hao Wang, Shanling Liu, He Wang, Jingqun Mai, Xihan Wang, Xin Chen, Zhu Zhang

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics & genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–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. Review
  2. Article
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

9 authors.

Wencong YaoDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Bocheng XuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Hao WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Shanling LiuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
He WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Jingqun MaiDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Xihan WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Xin ChenKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Zhu ZhangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.ORCID https://orcid.org/0000-0002-7489-6917

Funding

National Key Research and Development Program of China 2022YFC2703305Natural Science Foundation of Sichuan Province 2024NSFSC0650
6 · The paper itself

Abstract

backgroundPaired Box 2 (PAX2, NM_000278.5) encodes paired box gene 2, one of many human homologs of the Drosophila melanogaster gene prd. PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities.

methodsIn this study, both monochorionic diamniotic twins presenting bilateral renal agenesis were subjected to investigation. The pregnancy was terminated and muscular tissue of the fetus was analyzed by trio whole exome sequencing (WES). The target sequence was verified by Sanger sequencing at the genome level. In vitro Minigene model was constructed and the transcribed cDNA was subjected to Sanger sequencing to explore the splicing effect of the suspected mutation.

resultsThe synonymous mutation PAX2 c.792G>A was detected in both twins, but not in the parents or the family's firstborn. Although this mutation did not alter the amin acid sequence, minigene splice analysis confirmed that c.792G>A resulted in exon 6 skipping, leading to aberrant mRNA splicing.

conclusionPAX2 c.792G>A is the first pathogenic synonymous mutation ever documented. It has a significant impact on mRNA splicing and leads to developmental abnormalities. This case highlights the importance of clinical phenotyping as well as comprehensive genetic analysis during genetic testing, including evaluation of synonymous mutations.

Indexed as

Congenital AbnormalitiesKidneyKidney DiseasesPAX2 Transcription FactorSilent MutationFemaleHumansPregnancyRNA SplicingTwins, MonozygoticPAX2 protein, humanPAX2 Transcription Factorbilateral renal agenesisminigene analysisPAX2prenatal diagnosissynonymous mutation

Identifiers

PMID40515469
PMCPMC12166194

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