NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum. Issue 2 (9th December 2013)

• Record Type: Journal Article
• Authors: Bouchireb, Karim; Boyer, Olivia; Gribouval, Olivier; Nevo, Fabien; Huynh‐Cong, Evelyne; Morinière, Vincent; Campait, Raphaëlle; Ars, Elisabet; Brackman, Damien; Dantal, Jacques; Eckart, Philippe; Gigante, Maddalena; Lipska, Beata S.; Liutkus, Aurélia; Megarbane, André; Mohsin, Nabil; Ozaltin, Fatih; Saleem, Moin A.; Schaefer, Franz; Soulami, Kenza; Torra, Roser; Garcelon, Nicolas; Mollet, Géraldine; Dahan, Karin; Antignac, Corinne
• Is Part Of: Human mutation. Volume 35:Issue 2(2014:Feb.)
• Page Start: 178
• Page End: 186
• Publication Date: 2013-12-09
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22485
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22485-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Mutations in the <italic>NPHS2</italic> gene encoding podocin, are implicated in an autosomal recessive form of non syndromic steroid‐resistant nephrotic syndrome in both pediatric and adult patients. This article reviews 25 new mutations in addition to the 101 published since the first description in 2000, as well as several variants of unknown significance and polymorphisms. Genotype–phenotype analyses establish correlations between specific variants and age at onset, ethnicity, and clinical evolution. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg407qd8z2" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>