A novel variant in FN1 in a family with fibronectin glomerulopathy

Hum Genome Var. 2019 Feb 27:6:11. doi: 10.1038/s41439-019-0042-1. eCollection 2019.

Abstract

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.

Publication types

  • Case Reports