A novel variant in FN1 in a family with fibronectin glomerulopathy

Nabeel Aslam, Anshika Singh, Cherise Cortese, Douglas L. Riegert-Johnson

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article number11
JournalHuman Genome Variation
Volume6
Issue number1
DOIs
StatePublished - Dec 1 2019

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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