ArticleInternal medicine (Tokyo, Japan)
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.
Article in Internal medicine (Tokyo, Japan). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- A Systematic Review of PathogenicKidney international reports · 2022Article
- Last Nucleotide Substitutions ofKidney international reports · 2022Article
- A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.CEN case reports · 2019Article
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
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Authors and funding
11 authors at 2 institutions in 1 country.
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Abstract
We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important.
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