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 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 and the importance of WES to identify a mutation in a gene of interest.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393538 | PMC |
http://dx.doi.org/10.1038/s41439-019-0042-1 | DOI Listing |
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!