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Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Publication ,  Journal Article
Gbadegesin, RA; Lavin, PJ; Hall, G; Bartkowiak, B; Homstad, A; Jiang, R; Wu, G; Byrd, A; Lynn, K; Wolfish, N; Ottati, C; Stevens, P; Winn, MP ...
Published in: Kidney Int
January 2012

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients with FSGS. A secondary objective was to define an approach for genetic screening in families with autosomal dominant disease. A total of 248 individuals were identified with FSGS, of whom 31 had idiopathic disease. The remaining patients clustered into 64 families encompassing 15 from autosomal recessive and 49 from autosomal dominant kindreds. There were missense mutations in 8 of the 49 families with autosomal dominant disease. Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations. Thus, in our series, INF2 mutations were responsible for 16% of all cases of autosomal dominant FSGS, with these mutations clustered in exon 4. Hence, screening for these mutations may represent a rapid, non-invasive and cost-effective method for the diagnosis of autosomal dominant FSGS.

Duke Scholars

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Published In

Kidney Int

DOI

EISSN

1523-1755

Publication Date

January 2012

Volume

81

Issue

1

Start / End Page

94 / 99

Location

United States

Related Subject Headings

  • Young Adult
  • Urology & Nephrology
  • Sequence Homology, Amino Acid
  • Protein Structure, Tertiary
  • Mutation, Missense
  • Mutation
  • Mutant Proteins
  • Molecular Sequence Data
  • Models, Molecular
  • Middle Aged
 

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Gbadegesin, R. A., Lavin, P. J., Hall, G., Bartkowiak, B., Homstad, A., Jiang, R., … Winn, M. P. (2012). Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int, 81(1), 94–99. https://doi.org/10.1038/ki.2011.297
Gbadegesin, Rasheed A., Peter J. Lavin, Gentzon Hall, Bartlomiej Bartkowiak, Alison Homstad, Ruiji Jiang, Guanghong Wu, et al. “Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.Kidney Int 81, no. 1 (January 2012): 94–99. https://doi.org/10.1038/ki.2011.297.
Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, et al. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int. 2012 Jan;81(1):94–9.
Gbadegesin, Rasheed A., et al. “Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.Kidney Int, vol. 81, no. 1, Jan. 2012, pp. 94–99. Pubmed, doi:10.1038/ki.2011.297.
Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, Wu G, Byrd A, Lynn K, Wolfish N, Ottati C, Stevens P, Howell D, Conlon P, Winn MP. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int. 2012 Jan;81(1):94–99.
Journal cover image

Published In

Kidney Int

DOI

EISSN

1523-1755

Publication Date

January 2012

Volume

81

Issue

1

Start / End Page

94 / 99

Location

United States

Related Subject Headings

  • Young Adult
  • Urology & Nephrology
  • Sequence Homology, Amino Acid
  • Protein Structure, Tertiary
  • Mutation, Missense
  • Mutation
  • Mutant Proteins
  • Molecular Sequence Data
  • Models, Molecular
  • Middle Aged