A novel variant in in a family with fibronectin glomerulopathy.

Hum Genome Var

3Divisions of Medical Genetics and Gastroenterology, Mayo Clinic, Jacksonville, FL USA.

Published: February 2019

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393538PMC
http://dx.doi.org/10.1038/s41439-019-0042-1DOI Listing

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