Evidence map›Paper›PMID 41019761›Full record

ArticleFrontiers in genetics2025

Whole-exome sequencing in pediatric patients with glomerulonephritis.

Marina Peric, Marija Brankovic, Natasa Stajic, Jovana Putnik, Aleksandra Paripovic, Milena Jankovic, Dejan Nikolic, Filip Milanovic, Ivana Novakovic, Vladislav Vukomanovic

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Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Marina PericInstitute for Mother and Child Healthcare of Serbia "Dr. Vukan Cupic", Belgrade, Serbia.
Marija BrankovicDepartment for Clinical Genetics, University Children's Hospital, Belgrade, Serbia.
Natasa StajicInstitute for Mother and Child Healthcare of Serbia "Dr. Vukan Cupic", Belgrade, Serbia.
Jovana PutnikInstitute for Mother and Child Healthcare of Serbia "Dr. Vukan Cupic", Belgrade, Serbia.
Aleksandra ParipovicInstitute for Mother and Child Healthcare of Serbia "Dr. Vukan Cupic", Belgrade, Serbia.
Milena JankovicNeurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Dejan NikolicUniversity of Belgrade - Faculty of Medicine, Belgrade, Serbia.
Filip MilanovicUniversity of Belgrade - Faculty of Medicine, Belgrade, Serbia.
Ivana NovakovicUniversity of Belgrade - Faculty of Medicine, Belgrade, Serbia.
Vladislav VukomanovicInstitute for Mother and Child Healthcare of Serbia "Dr. Vukan Cupic", Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: High-throughput sequencing methods revealed disease-causing and susceptibility genes underlying glomerulonephritis (GN). Genetic disorders mimicking GN may be diagnosed in this way. The aim of this study was to perform whole-exome sequencing (WES) in a cohort of sporadic pediatric patients diagnosed with primary or secondary GN. Method: Thirty-one patients with GN and 50 nephrologically and immunologically healthy pediatric patients (control group - CG) were genetically analyzed. Allele frequencies were compared with the GnomAD database. WES was performed in the laboratory 3billion in South Korea. Results: Among 10 patients with primary GN, two patients were positive on WES (20%). One had a likely pathogenic heterozygous variant in the Conclusion: WES helped us detect hereditary diseases that have a clinical presentation like GN, including Alport syndrome and possible aHUS. Finding susceptibility genes in GN helped us understand disease pathophysiology.

Indexed as

Alport syndromeatypical hemolytic uremic syndromeglomerulonephritisHenoch–Schoenlein purpurasystemic lupus erythematosuswhole-exome sequencing

Identifiers

PMID41019761
PMCPMC12463631

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