ArticleBMC pediatrics2026
Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2.
Article in BMC pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
backgroundMissense variants in disease-associated genes cause aberrant pre-mRNA splicing, carrying profound implications for molecular diagnostics, pathogenic mechanism elucidation, and personalized therapy development. The distinct genotype-phenotype correlation observed in PAX2-related disorders underscores the need to evaluate how identified PAX2 gene variants impact pre-mRNA splicing. This study aimed to investigate the effects of PAX2 missense variants localized to the first or last nucleotides of an exon on pre-mRNA splicing.
methodsFour PAX2 variants located at the last nucleotide of exons [NM_000278.5:c.212G > A (p.Arg71Lys), c.212G > T (p.Arg71Met), c.212G > C (p.Arg71Thr), and c.919G > A (p.Gly307Ser)] obtained from the Human Gene Mutation Database, along with one variant identified in our cohort [c.427G > C (p.Val143Leu)], were analyzed. A minigene splicing assay was performed to evaluate their functional effects on pre-mRNA splicing. Comprehensive clinical data were collected from the patient harboring the c.427G > C variant.
resultsThree bioinformatic prediction tools indicated that aforementioned five candidate variants were likely to affect RNA splicing. The in vitro minigene assay demonstrated that all these variants consistently induced the skipping of target exons. For the patient with the PAX2 c.427G > C variant, renal dysfunction was observed and postulated to be linked to renal hypoplasia; concomitantly, the patient presented with proteinuria, a complication primarily ascribed to obesity-related focal segmental glomerulosclerosis. Following three years of clinical management, the patient achieved weight normalization, accompanied by stable renal function and proteinuria.
conclusionsTranscript-level RNA analysis reclassified PAX2 missense variants located at the last nucleotide of exons as splice-altering variants, which highlights the indispensable role of transcript-level assessment in characterizing exonic point variants of disease-causing genes to advance pathogenic mechanism research and personalized therapy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.