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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Bibliographic Details
Published in:Human genome variation 2019-02, Vol.6 (1), p.11, Article 11
Main Authors: Aslam, Nabeel, Singh, Anshika, Cortese, Cherise, Riegert-Johnson, Douglas L.
Format: Article
Language:English
Subjects:
631/208/1516/1510
692/699/1585/2759
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Mutation
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Summary: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-019-0042-1