title: NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians.
abstract: OBJECTIVE
  Nephrotic syndrome is one of the most commonly diagnosed primary kidney diseases and its progressive forms can lead to chronic kidney disease and or end-stage renal disease. Steroid-resistant nephrotic syndrome is defined by resistance to standard steroid therapy and it remains one of the most intractable causes of kidney failure. Mutations in NPHS2, which encodes for podocin, an integral membrane protein of the glomerular epithelial cells (podocytes), represent a frequent cause of steroid-resistant nephrotic syndrome worldwide. This study was aimed at screening for known NPHS2 mutations in Indians with nephrotic syndrome.
  
  
  METHODS
  We screened a cohort of 484 subjects from the southern Indian population for the presence of four missense mutations G92C, P118L, R138Q and D160G within the NPHS2 gene using tetra primer ARMS PCR.
  
  
  RESULTS
  Our results revealed that these mutations were seen only among the patients (14.02%) and were absent in the controls, suggesting their disease-causing nature. Further categorization revealed that these mutations were together responsible for 18.5% of steroid-resistant cases in our study group. Conversely, the studied mutations were not found in the controls as well as in the patients with steroid-sensitive nephrotic syndrome.
  
  
  CONCLUSIONS
  This is the first such report from India. More studies are warranted to establish the frequency of NPHS2 mutations in the Asian-Indian population and such analysis may help in developing mutation(s)-specific therapeutic interventions in the future.
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India.
authors.forename: Asra
authors.initials: A
authors.lastname: Jaffer
authors.forename: Wali
authors.initials: W
authors.lastname: Unnisa
authors.forename: D S B
authors.initials: DS
authors.lastname: Raju
authors.forename: Parveen
authors.initials: P
authors.lastname: Jahan
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000706:statistics & numerical data; D006801:Humans; D007194:India / Q000453:epidemiology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011379:Prognosis
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein
keywords: end-stage kidney disease; focal segmental glomerulosclerosis; genetics; nephrotic syndrome and podocyte