A novel variant in FN1 in a family with fibronectin glomerulopathy

Human Genome Variation
Nabeel AslamDouglas L Riegert-Johnson

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.

References

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Citations

Nov 2, 2019·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Felix KlieweNicole Endlich

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Methods Mentioned

BETA
biopsy

Software Mentioned

SIFT
PolyPhen

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