%0 Journal Article
%T A novel variant in FN1 in a family with fibronectin glomerulopathy
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0042-1
%X 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
%U https://www.nature.com/articles/s41439-019-0042-1