ArticlePediatric nephrology (Berlin, Germany)2015
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Article in Pediatric nephrology (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 43 citations in OpenAlex.
- Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.Molecular genetics & genomic medicine · 2019Trial
- Thin Glomerular Basement Membrane Phenotypes With No Identified PathogenicKidney international reports · 2026Article
- Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.Scientific reports · 2025Article
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Roles of myosin 1e and the actin cytoskeleton in kidney functions and familial kidney disease.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Review
- Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.Pediatric nephrology (Berlin, Germany) · 2023Article
- Article
- Approach to genetic testing to optimize the safety of living donor transplantation in Alport syndrome spectrum.Pediatric nephrology (Berlin, Germany) · 2022Review
- Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- The 2019 and 2021 International Workshops on Alport Syndrome.European journal of human genetics : EJHG · 2022Article
- Detection of Very Low-Level Somatic MosaicFrontiers in medicine · 2022Article
- Bedside to bench Alport syndrome research: are human urine-derived podocytes the answer?The Journal of pathology · 2021Article
- Poststreptococcal acute glomerulonephritis can be a risk factor for accelerating kidney dysfunction in Alport syndrome: a case experience.CEN case reports · 2020Article
- Basement membrane ligands initiate distinct signalling networks to direct cell shape.Matrix biology : journal of the International Society for Matrix Biology · 2020Article
- Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2020Review
- The importance of clinician, patient and researcher collaborations in Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2020Article
- Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.Molecular genetics and genomics : MGG · 2020Article
- Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background.Scientific reports · 2019Article
- Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
15 authors at 8 institutions in 1 country.
Funding
Abstract
backgroundMutations in podocyte and basement membrane genes are associated with a growing spectrum of glomerular disease affecting adults and children. Investigation of familial cases has helped to build understanding of both normal physiology and disease.
methodsWe investigated a consanguineous family with a wide clinical phenotype of glomerular disease using clinical, histological, and new genetic studies.
resultsWe report striking variability in severity of nephropathy within an X-linked Alport syndrome (XLAS) family. Four siblings each carried a mutant COL4A5 allele, p.(Gly953Val) and p.(Gly1033Arg). Two boys had signs limited to hematuria and mild/moderate proteinuria. In striking contrast, a sister presented with end-stage renal disease (ESRD) at 8 years of age and an infant brother presented with nephrotic syndrome, progressing to ESRD by 3 years of age. Both were subsequently found to have homozygous variants in MYO1E, p.(Lys118Glu) and p.(Thr876Arg). MYO1E is a gene implicated in focal segmental glomerulosclerosis and it encodes a podocyte-expressed non-muscle myosin. Bioinformatic modeling demonstrated that the collagen IV-alpha3,4,5 extracellular network connected via known protein-protein interactions to intracellular myosin 1E.
conclusionsCOL4A5 and MYO1E mutations may summate to perturb common signaling pathways, resulting in more severe disease than anticipated independently. We suggest screening for MYO1E and other non-COL4 'podocyte gene' mutations in XLAS when clinical nephropathy is more severe than expected for an individual's age and sex.
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