A novel variant in FN1 in a family with fibronectin glomerulopathy

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

doi:10.1038/s41439-019-0042-1

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 journal › Article › peer-review

1 Scopus citations

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 language	English (US)
Article number	11
Journal	Human Genome Variation
Volume	6
Issue number	1
DOIs	https://doi.org/10.1038/s41439-019-0042-1
State	Published - Dec 1 2019

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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title = "A novel variant in FN1 in a family with fibronectin glomerulopathy",

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{\textquoteright}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.",

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AU - Singh, Anshika

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AU - Riegert-Johnson, Douglas L.

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Y1 - 2019/12/1

N2 - 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.

AB - 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.

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A novel variant in FN1 in a family with fibronectin glomerulopathy

Abstract

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