Journal
HUMAN MUTATION
Volume 35, Issue 2, Pages 178-186Publisher
WILEY
DOI: 10.1002/humu.22485
Keywords
NPHS2; steroid-resistant nephrotic syndrome; podocin; FSGS
Categories
Funding
- Fondation pour la Recherche Medicale [DMP2010-11-20-386]
- Agence Nationale de la Recherche (GenPod project) [ANR-12-BSV1-0033.01]
- European Community [2012-305608]
- Spanish Health Ministry Grant FIS [12/01523]
- Scientific and Technological Research Council of Turkey (TUBITAK) [108S417]
- Scientific Research and Development Office of the Hacettepe University [011A101003]
- Hacettepe University Infrastructure Project [06A101008]
- Agence Nationale de la Recherche (ANR) [ANR-12-BSV1-0033] Funding Source: Agence Nationale de la Recherche (ANR)
- MRC [G0800571] Funding Source: UKRI
- Kidney Research UK [RP45/2008] Funding Source: researchfish
- Medical Research Council [G0800571] Funding Source: researchfish
Ask authors/readers for more resources
Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. Patients with homozygous or compound heterozygous mutations commonly present with steroid-resistant nephrotic syndrome before the age of 6years and rapidly progress to end-stage kidney disease with a very low prevalence of recurrence after renal transplantation. Here, we reviewed all the NPHS2 mutations published between October 1999 and September 2013, and also all novel mutations identified in our personal cohort and in international genetic laboratories. We identified 25 novel pathogenic mutations in addition to the 101 already described. The mutations are distributed along the entire coding region and lead to all kinds of alterations including 53 missense, 17 nonsense, 11 small insertions, 26 small deletions, 16 splicing, two indel mutations, and one mutation in the stop codon. In addition, 43 variants were classified as variants of unknown significance, as these missense changes were exclusively described in the heterozygous state and/or considered benign by prediction software. Genotype-phenotype analyses established correlations between specific variants and age at onset, ethnicity, or clinical evolution. We created a Web database using the Leiden Open Variation Database (www.lovd.nl/NPHS2) software that will allow the inclusion of future reports. (C) 2013 Wiley Periodicals, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available