Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life.
In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a compound heterozygous state with another podocin mutation. Learning to tell apart the specific allele combinations of podocin mutations will be important for prognosis, genetic counseling in living related kidney donation, accurate etiologic classification within treatment studies, and the understanding of podocin function.
Hildebrandt
Friedhelm
F
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA. fhilde@umich.edu
Heeringa
Saskia F
SF
D000328:Adult; D017668:Age of Onset; D004351:Drug Resistance; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000502:physiology*; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D011379:Prognosis
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein