A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report

Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-ye...

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Autores principales: Kumagai, Naonori, Matsumoto, Yuji, Kondoh, Tomomi, Ikezumi, Yohei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433376/
https://www.ncbi.nlm.nih.gov/pubmed/36045115
http://dx.doi.org/10.1038/s41439-022-00209-6
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author Kumagai, Naonori
Matsumoto, Yuji
Kondoh, Tomomi
Ikezumi, Yohei
author_facet Kumagai, Naonori
Matsumoto, Yuji
Kondoh, Tomomi
Ikezumi, Yohei
author_sort Kumagai, Naonori
collection PubMed
description Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.
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spelling pubmed-94333762022-09-02 A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report Kumagai, Naonori Matsumoto, Yuji Kondoh, Tomomi Ikezumi, Yohei Hum Genome Var Data Report Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome. Nature Publishing Group UK 2022-08-31 /pmc/articles/PMC9433376/ /pubmed/36045115 http://dx.doi.org/10.1038/s41439-022-00209-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Kumagai, Naonori
Matsumoto, Yuji
Kondoh, Tomomi
Ikezumi, Yohei
A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
title A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
title_full A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
title_fullStr A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
title_full_unstemmed A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
title_short A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
title_sort novel col4a5 splicing variant causing x-linked alport syndrome: a case report
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433376/
https://www.ncbi.nlm.nih.gov/pubmed/36045115
http://dx.doi.org/10.1038/s41439-022-00209-6
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