ReviewKidney research and clinical practice2020
Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.
Review in Kidney research and clinical practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family.Current issues in molecular biology · 2026Article
- Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.CEN case reports · 2026Article
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.Molecular and cellular pediatrics · 2025Article
- Systematic metabolomic study on the plasma and urine of a mouse model of Alport syndrome.Scientific reports · 2025Article
- Investigation of current clinical practices and perceptions of patients and caregivers regarding Alport syndrome in South Korea.Kidney research and clinical practice · 2025Article
- High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.Biomedicines · 2025Article
- Genotype-Based Molecular Mechanisms in Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2025Review
- Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.Scientific reports · 2025Article
- Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.Clinical and experimental nephrology · 2024Article
- A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives.Biomedicines · 2023Review
- Alport Syndrome: A Comprehensive Review.Cureus · 2023Review
- Alport Syndrome: Clinical Spectrum and Therapeutic Advances.Kidney medicine · 2023Review
- Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.Scientific reports · 2023Article
- The Contribution ofFrontiers in medicine · 2022Review
- Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.Frontiers in genetics · 2022Article
- A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.BMC nephrology · 2021Article
- Functional assessment of a novelAnnals of translational medicine · 2021Article
- Non-Coding RNAs in Hereditary Kidney Disorders.International journal of molecular sciences · 2021Review
- A Case Report ofCase reports in nephrology and dialysisArticle
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing loss and ocular abnormalities. There are three forms of AS depending on inheritance mode: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, which encodes type IV collagen α5 chain, while ADAS and ARAS are caused by variants in COL4A3 or COL4A4, which encode type IV collagen α3 or α4 chain, respectively. In male XLAS or ARAS cases, end-stage kidney disease (ESKD) develops around a median age of 20 to 30 years old, while female XLAS or ADAS cases develop ESKD around a median age of 60 to 70 years old. The diagnosis of AS is dependent on either genetic or pathological findings. However, determining the pathogenicity of the variants detected by gene tests can be difficult. Recently, we applied the following molecular investigation tools to determine pathogenicity: 1) in silico and in vitro trimer formation assay of α345 chains to assess triple helix formation ability, 2) kidney organoids constructed from patients' induced pluripotent stem cells to identify α5 chain expression on the glomerular basement membrane, and 3) in vitro splicing assay to detect aberrant splicing to determine the pathogenicity of variants. In this review article, we discuss the genetic background and novel assays for determining the pathogenicity of variants. We also discuss the current treatment approaches and introduce exon skipping therapy as one potential treatment option.
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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.