ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2019
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 42 citations in OpenAlex.
- Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.European journal of human genetics : EJHG · 2019Trial
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.Journal of diabetes investigation · 2025Article
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Linking Basement Membrane and Slit Diaphragm in Drosophila Nephrocytes.Journal of the American Society of Nephrology : JASN · 2024Article
- Drosophila Nephrocyte as a Model for Studying Glomerular Basement Membrane Physiology.Journal of the American Society of Nephrology : JASN · 2024Article
- Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene.Pediatric nephrology (Berlin, Germany) · 2024Article
- Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.Italian journal of pediatrics · 2024Article
- Recent Advances in Proteinuric Kidney Disease/Nephrotic Syndrome: Lessons from Knockout/Transgenic Mouse Models.Biomedicines · 2023Review
- A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects.JCI insight · 2022Article
- A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background.Kidney international · 2022Article
- A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Article
- Tissue-specific parameters for the design of ECM-mimetic biomaterials.Acta biomaterialia · 2021Review
- 3D Mapping Reveals a Complex and Transient Interstitial Matrix During Murine Kidney Development.Journal of the American Society of Nephrology : JASN · 2021Article
- Genetic Disorders of the Glomerular Filtration Barrier.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.Development (Cambridge, England) · 2020Article
- Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.American journal of human genetics · 2020Article
- LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling.Stem cell research & therapy · 2020Article
- Maternal alloimmune IgG causes anti-glomerular basement membrane disease in perinatal transgenic mice that express human laminin α5.Kidney international · 2019Article
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Authors and funding
24 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundNephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, ∼15% of childhood-onset cases do not respond to steroid therapy and are classified as steroid-resistant NS (SRNS). In ∼30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes laminin-α5, an essential component of the glomerular basement membrane. Mice with a hypomorphic mutation in the orthologous gene Lama5 develop proteinuria and hematuria.
methodsTo identify additional monogenic causes of NS, we performed whole exome sequencing in 300 families with pediatric NS. In consanguineous families we applied homozygosity mapping to identify genomic candidate loci for the underlying recessive mutation.
resultsIn three families, in whom mutations in known NS genes were excluded, but in whom a recessive, monogenic cause of NS was strongly suspected based on pedigree information, we identified homozygous variants of unknown significance (VUS) in the gene LAMA5. While all affected individuals had nonsyndromic NS with an early onset of disease, their clinical outcome and response to immunosuppressive therapy differed notably.
conclusionWe here identify recessive VUS in the gene LAMA5 in patients with partially treatment-responsive NS. More data will be needed to determine the impact of these VUS in disease management. However, familial occurrence of disease, data from genetic mapping and a mouse model that recapitulates the NS phenotypes suggest that these genetic variants may be inherited factors that contribute to the development of NS in pediatric patients.
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