ArticleMolecular and cellular pediatrics2025
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Article in Molecular and cellular pediatrics, 2025. 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
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited kidney diseases (IKDs) are a significant cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD), especially in children. While next-generation sequencing (NGS) has enhanced IKD diagnosis, data from consanguineous populations, where autosomal recessive inheritance is more common, remain limited.
aimThis study aimed to identify genetic variants associated with IKDs, primarily from consanguineous Egyptian families, using targeted next-generation sequencing (NGS). It further assessed genotype–phenotype correlations and explored clinical implications for early diagnosis, familial screening, and disease management.
methodsTwenty-six Egyptian patients clinically suspicion with IKDs were enrolled. Targeted NGS was conducted using a gene panel associated with IKDs. Variants were classified per American College of Medical Genetics and Genomics (ACMG) guidelines. Segregation analysis was performed when possible. In silico tools, including VarSome, I-Mutant 2.0, and GeneMANIA, were used to predict variant pathogenicity, protein impact, and gene–gene interactions.
resultsSeventeen distinct variants were detected in 12 genes, including six novel mutations. Alport Syndrome was the most frequent disorder, with COL4A3 and COL4A5 mutations predominating. A novel COL4A3 variant (c.3926C > A) was identified, reinforcing the role of collagen gene mutations. FREM1 variants, including two novel ones, were linked to syndromic IKDs. AGT and ACE variants were associated with renal tubular dysgenesis, while PKD1 and PKHD1 mutations indicated both dominant and recessive polycystic kidney disease. High consanguinity supported autosomal recessive patterns.
conclusionsThis study expands the mutational spectrum of IKDs in an underrepresented population and highlights the utility of targeted NGS in guiding early diagnosis, genetic counseling, and personalized management in high-risk, consanguineous populations.
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.