title: NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome.
abstract: We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with  sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. The allele and genotype frequencies of the four known single nucleotide polymorphisms detected in the cohort were similar to that of controls. This finding emphasizes the need to screen for mutations in other genes involved in the pathogenesis of SRNS.
authors.affiliation: St John Medical College Hospital, Koramangala, Bengaluru, India. anilvasu@hotmail.com
authors.forename: Anil
authors.initials: A
authors.lastname: Vasudevan
authors.forename: Annes
authors.initials: A
authors.lastname: Siji
authors.forename: Ashwini
authors.initials: A
authors.lastname: Raghavendra
authors.forename: T S
authors.initials: TS
authors.lastname: Sridhar
authors.forename: Kishore D
authors.initials: KD
authors.lastname: Phadke
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein