ArticleJournal of the American Society of Nephrology : JASN2010
Genotype-phenotype correlation in X-linked Alport syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 162 papers, 2 of them syntheses that pooled it.
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
162 citing papers in PubMed, 2 syntheses or guidelines pooled it, 276 citations in OpenAlex.
- Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative.Pediatric nephrology (Berlin, Germany) · 2013Guideline
- Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.Molecular genetics & genomic medicine · 2019Trial
- Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.International urology and nephrology · 2026Article
- Kidney organoids as models for hereditary kidney diseases: Toward precision medicine (Review).Experimental and therapeutic medicine · 2026Review
- Mouse model of X-linked Alport syndrome with K229X mutation in the COL4A5 gene.Scientific reports · 2026Article
- Hearing loss and truncating variants in Alport syndrome.Kidney research and clinical practice · 2026Article
- A NovelGenes · 2026Article
- From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2026Review
- Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.Kidney medicine · 2026Article
- Special Issue: "Molecular Mechanisms and Regulation in Chronic Kidney Diseases".International journal of molecular sciences · 2026Article
- Retinal and microvascular alterations in Alport syndrome: a multimodal imaging study.BMC ophthalmology · 2026Article
- Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome.Frontiers in medicine · 2026Article
- Identification and pathogenicity analysis of a novel intronicFrontiers in medicine · 2026Article
- Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS).Clinical and experimental nephrology · 2026Article
- Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Scientific reports · 2025Article
- Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.Kidney international reports · 2025Article
- Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome.Scientific reports · 2025Article
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.Molecular and cellular pediatrics · 2025Article
- Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants inClinical kidney journal · 2025Article
102 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations and the underlying mutations adds prognostic value to genetic testing, which is increasingly available. Our aim was to determine the association between genotype and phenotype in 681 affected male participants with XLAS from 175 US families. Hearing loss and ocular changes were present in 67 and 30% of participants, respectively. Average age of participants at onset of ESRD was 37 years for those with missense mutations, 28 years for those with splice-site mutations, and 25 years for those with truncating mutations (P < 0.0001). We demonstrated a strong relationship between mutation position and age at onset of ESRD, with younger age at onset of ESRD associated with mutations at the 5' end of the gene (hazard ratio 0.766 [95% confidence interval 0.694 to 0.846] per 1000 bp toward the 3' end; P < 0.0001). Affected participants with splice mutations or truncating mutations each had two-fold greater odds of developing eye problems than those with missense mutations; development of hearing impairment showed a similar trend. Hearing loss and ocular changes associated with mutations located closer to the 5; end of the gene. These strong genotype-phenotype correlations could potentially help in the evaluation and counseling of US families with XLAS.
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.