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

Fingerprint

Fibronectins
Exome
Deposits
Genes
Mutation
Biopsy
Mass spectrometry
Mass Spectrometry
Tissue
Kidney
Glomerulopathy with fibronectin deposits

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

Cite this

A novel variant in FN1 in a family with fibronectin glomerulopathy. / Aslam, Nabeel; Singh, Anshika; Cortese, Cherise; Riegert-Johnson, Douglas L.

In: Human Genome Variation, Vol. 6, No. 1, 11, 01.12.2019.

Research output: Contribution to journalArticle

Aslam, Nabeel ; Singh, Anshika ; Cortese, Cherise ; Riegert-Johnson, Douglas L. / A novel variant in FN1 in a family with fibronectin glomerulopathy. In: Human Genome Variation. 2019 ; Vol. 6, No. 1.
@article{b781668d7bf345d5aabf69b73c4bd701,
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’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.",
author = "Nabeel Aslam and Anshika Singh and Cherise Cortese and Riegert-Johnson, {Douglas L.}",
year = "2019",
month = "12",
day = "1",
doi = "10.1038/s41439-019-0042-1",
language = "English (US)",
volume = "6",
journal = "Human Genome Variation",
issn = "2054-345X",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - A novel variant in FN1 in a family with fibronectin glomerulopathy

AU - Aslam, Nabeel

AU - Singh, Anshika

AU - Cortese, Cherise

AU - Riegert-Johnson, Douglas L.

PY - 2019/12/1

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.

UR - http://www.scopus.com/inward/record.url?scp=85069296250&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85069296250&partnerID=8YFLogxK

U2 - 10.1038/s41439-019-0042-1

DO - 10.1038/s41439-019-0042-1

M3 - Article

AN - SCOPUS:85069296250

VL - 6

JO - Human Genome Variation

JF - Human Genome Variation

SN - 2054-345X

IS - 1

M1 - 11

ER -