title: NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
abstract: BACKGROUND
  The most frequently mutated gene of steroid-resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS.
  
  
  METHODS
  A cohort of 38 Hungarian patients with childhood-onset nephrotic-range proteinuria was screened for NPHS2 mutations. The frequency of the p.V290M mutation in late-onset SRNS was examined in the French and PodoNet cohorts.
  
  
  RESULTS
  Of the 38 Hungarian patients screened, seven carried NPHS2 mutations on both alleles, of whom two-diagnosed with proteinuria through school screening programs at the age of 9.7 and 14 years, respectively-did not develop nephrotic syndrome in childhood. The first, an 18-year-old boy, homozygous for p.V290M, has never developed edema. The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. Both patients currently have a normal glomerular filtration rate. The mutation p.V290M was carried by three of the 38 patients in the Hungarian cohort, by two of the 95 patients with late-onset SRNS in the PodoNet cohort and by none of the 83 patients in the French cohort.
  
  
  CONCLUSIONS
  We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.
authors.affiliation: First Department of Pediatrics, Semmelweis University, Budapest, Bókay J. u. 53, Budapest, Hungary.
authors.forename: Andrea
authors.initials: A
authors.lastname: Kerti
authors.forename: Rózsa
authors.initials: R
authors.lastname: Csohány
authors.forename: Attila
authors.initials: A
authors.lastname: Szabó
authors.forename: Ottó
authors.initials: O
authors.lastname: Arkossy
authors.forename: Péter
authors.initials: P
authors.lastname: Sallay
authors.forename: Vincent
authors.initials: V
authors.lastname: Moriniére
authors.forename: Virginia
authors.initials: V
authors.lastname: Vega-Warner
authors.forename: Gábor
authors.initials: G
authors.lastname: Nyírő
authors.forename: Orsolya
authors.initials: O
authors.lastname: Lakatos
authors.forename: Tamás
authors.initials: T
authors.lastname: Szabó
authors.forename: Beata S
authors.initials: BS
authors.lastname: Lipska
authors.forename: Franz
authors.initials: F
authors.lastname: Schaefer
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.forename: George
authors.initials: G
authors.lastname: Reusz
authors.forename: Tivadar
authors.initials: T
authors.lastname: Tulassay
authors.forename: Kálmán
authors.initials: K
authors.lastname: Tory
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005060:Europe / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005919:Glomerular Filtration Rate; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007668:Kidney / Q000503:physiopathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D011507:Proteinuria / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein