ArticleWorld journal of pediatrics : WJP2026
Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.
Article in World journal of pediatrics : WJP, 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
9 authors.
Funding
Abstract
backgroundNeurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in the NF1 gene. The NF1 gene product neurofibromin, acts as a tumor suppressor primarily by negatively regulating the mitogen-activated protein kinase signaling pathway. This study aimed to characterize both the genotypic and phenotypic spectrum of pediatric NF1 patients at a single center and further explore potential genotype-phenotype correlations.
methodsPediatric patients diagnosed with NF1 who were treated and followed up at our center from July 2013 to August 2025 were included. All patients underwent genetic testing, both phenotypic and genotypic data were collected and curated. Statistical analyses were performed using SPSS, GraphPad Prism, and Python. Growth curves and variant distribution maps were generated based on the integrated dataset.
resultsA total of 301 patients were included. They exhibited a broad multisystem phenotype with several clinical manifestations and notable sex-related differences, particularly skeletal abnormalities and developmental or intellectual impairments. Males had significantly lower height standard deviation scores (SDS) than females, and P50 growth curves were consistently below those of healthy reference values. Truncating variants were the most common (60.8%). Among 229 patients with known parental origin, 77.29% carried de novo variants, and 37 novel variants were identified. Patients harboring single amino acid variations exhibited a significantly higher prevalence of short stature than those with truncating variants, whereas splice variants were associated with unidentified bright objects (UBOs) and optic nerve abnormalities.
conclusionsThis study provides a comprehensive characterization of the genotypic and phenotypic landscape of pediatric NF1 in a large cohort. By incorporating growth data from childhood, we construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities. These findings expand the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.
Indexed as
Identifiers
42686941What 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.