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A novel variant in FN1 in a family with fibronectin glomerulopathy.
- Source :
- Human Genome Variation; 2/27/2019, Vol. 6 Issue 1, pN.PAG-N.PAG, 1p
- Publication Year :
- 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- FIBRONECTINS
BIOPSY
GENETIC mutation
MASS spectrometry
IMMUNOSTAINING
Subjects
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 6
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- 137441647
- Full Text :
- https://doi.org/10.1038/s41439-019-0042-1