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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
NPHS2 mutations in steroid-resistant nephrotic syndrome: A mutation update and the associated phenotypic spectrum
Human Mutation, Volume 35, No. 2, Year 2014
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Description
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 6 years 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. © 2013 WILEY PERIODICALS, INC.
Authors & Co-Authors
Bouchireb, Karim
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Boyer, Olivia Gillion
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Gribouval, Olivier
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Nevo, Fabien
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Huynh-Cong, Evelyne
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Moriniére, Vincent
France, Paris
Hôpital Necker Enfants Malades
Campait, Raphaëlle
France, Paris
Hôpital Necker Enfants Malades
Ars, Elisabet
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Brackman, Damien
Norway, Bergen
Haukeland Universitetssjukehus
Dantal, Jacques
France, Nantes
Hôtel Dieu Chu de Nantes
Eckart, Philippe
France, Caen
Chu de Caen Normandie
Gigante, Maddalena
Italy, Foggia
Università Degli Studi Di Foggia
Lipska, Beata S.
Poland, Gdansk
Gdanski Uniwersytet Medyczny
Liutkus, Aurélia
France, Lyon
Chu de Lyon
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Mohsin, Nabil
Oman, Muscat
Royal Hospital
Ozaltin, Fatih
Turkey, Ankara
Hacettepe Üniversitesi
Saleem, Moin A.
United Kingdom, Bristol
University of Bristol
Schaefer, Franz
Germany, Heidelberg
Universität Heidelberg
Soulami, Kenza
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Torra, Roser
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Garcelon, Nicolas
France, Paris
Hôpital Necker Enfants Malades
Mollet, Géraldine
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Dahan, Karin In
Belgium, Louvain-la-neuve
Université Catholique de Louvain
Antignac, Corinne
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Statistics
Citations: 25
Authors: 25
Affiliations: 16
Identifiers
Doi:
10.1002/humu.22485
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cross Sectional Study
Cohort Study