Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a...

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Autores principales: Hines, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N., Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039481/
https://www.ncbi.nlm.nih.gov/pubmed/30002862
http://dx.doi.org/10.1038/s41439-018-0016-8
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author Hines, Stephanie L.
Agarwal, Anjali
Ghandour, Mohamedanwar
Aslam, Nabeel
Mohammad, Ahmed N.
Atwal, Paldeep S.
author_facet Hines, Stephanie L.
Agarwal, Anjali
Ghandour, Mohamedanwar
Aslam, Nabeel
Mohammad, Ahmed N.
Atwal, Paldeep S.
author_sort Hines, Stephanie L.
collection PubMed
description We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches.
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spelling pubmed-60394812018-07-12 Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families Hines, Stephanie L. Agarwal, Anjali Ghandour, Mohamedanwar Aslam, Nabeel Mohammad, Ahmed N. Atwal, Paldeep S. Hum Genome Var Article We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches. Nature Publishing Group UK 2018-07-10 /pmc/articles/PMC6039481/ /pubmed/30002862 http://dx.doi.org/10.1038/s41439-018-0016-8 Text en © The Author(s) 2018 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/.
spellingShingle Article
Hines, Stephanie L.
Agarwal, Anjali
Ghandour, Mohamedanwar
Aslam, Nabeel
Mohammad, Ahmed N.
Atwal, Paldeep S.
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
title Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
title_full Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
title_fullStr Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
title_full_unstemmed Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
title_short Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
title_sort novel variants in col4a4 and col4a5 are rare causes of fsgs in two unrelated families
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039481/
https://www.ncbi.nlm.nih.gov/pubmed/30002862
http://dx.doi.org/10.1038/s41439-018-0016-8
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