A novel variant in FN1 in a family with fibronectin glomerulopathy

Glomerulopathy with fibronectin deposits (GFND) is a rare glomerular disorder. We report a 28-year-old male diagnosed with GFND by mass spectrometry on kidney biopsy tissue. Whole-exome sequencing (WES) identified that a previously undescribed FN1 gene mutation (c.3051G > T, p.W1017C) was likely...

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Autores principales: Aslam, Nabeel, Singh, Anshika, Cortese, Cherise, Riegert-Johnson, Douglas L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393538/
https://www.ncbi.nlm.nih.gov/pubmed/30820325
http://dx.doi.org/10.1038/s41439-019-0042-1
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author Aslam, Nabeel
Singh, Anshika
Cortese, Cherise
Riegert-Johnson, Douglas L.
author_facet Aslam, Nabeel
Singh, Anshika
Cortese, Cherise
Riegert-Johnson, Douglas L.
author_sort Aslam, Nabeel
collection PubMed
description Glomerulopathy with fibronectin deposits (GFND) is a rare glomerular disorder. We report a 28-year-old male diagnosed with GFND by mass spectrometry on kidney biopsy tissue. Whole-exome sequencing (WES) identified that a previously undescribed FN1 gene mutation (c.3051G > T, p.W1017C) was likely responsible for this patient’s fibronectin glomerulopathy. We discuss the implications of this novel variant of FN1 and the importance of WES to identify a mutation in a gene of interest.
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spelling pubmed-63935382019-02-28 A novel variant in FN1 in a family with fibronectin glomerulopathy Aslam, Nabeel Singh, Anshika Cortese, Cherise Riegert-Johnson, Douglas L. Hum Genome Var Data Report Glomerulopathy with fibronectin deposits (GFND) is a rare glomerular disorder. We report a 28-year-old male diagnosed with GFND by mass spectrometry on kidney biopsy tissue. Whole-exome sequencing (WES) identified that a previously undescribed FN1 gene mutation (c.3051G > T, p.W1017C) was likely responsible for this patient’s fibronectin glomerulopathy. We discuss the implications of this novel variant of FN1 and the importance of WES to identify a mutation in a gene of interest. Nature Publishing Group UK 2019-02-27 /pmc/articles/PMC6393538/ /pubmed/30820325 http://dx.doi.org/10.1038/s41439-019-0042-1 Text en © The Author(s) 2019 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 Data Report
Aslam, Nabeel
Singh, Anshika
Cortese, Cherise
Riegert-Johnson, Douglas L.
A novel variant in FN1 in a family with fibronectin glomerulopathy
title A novel variant in FN1 in a family with fibronectin glomerulopathy
title_full A novel variant in FN1 in a family with fibronectin glomerulopathy
title_fullStr A novel variant in FN1 in a family with fibronectin glomerulopathy
title_full_unstemmed A novel variant in FN1 in a family with fibronectin glomerulopathy
title_short A novel variant in FN1 in a family with fibronectin glomerulopathy
title_sort novel variant in fn1 in a family with fibronectin glomerulopathy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393538/
https://www.ncbi.nlm.nih.gov/pubmed/30820325
http://dx.doi.org/10.1038/s41439-019-0042-1
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