… variant R229Q together with another podocin mutation may cause adult onset of SRNS (>18 …
specific mutated gene and the specific mutation within that gene, determine the age of onset …

… onset <1.75 years) than any other patient group, with or without podocin mutations, in this
study (mean onset … homozygous R138Q mutations developed SRNS before 6 yr of age. Patient …

… onset and malignant outcome, mimicking familial cases. It is clear that determination of the
actual impact of podocin mutations on … podocin mutation in two patients with late-onset FSGS, …

… In particular, in our patients, quantity and age at onset of proteinuria as well as … the mutations
in our series were studied in a pediatric age group, it is not possible to exclude adult onset …

… As occurs in carriers of heterozygous NPHS2 mutations, the age at onset was variable with
a few carriers presenting proteinuria in adulthood. Only one screening study in 64 adults with …

… We screened for podocin mutations in 53 sporadic patients … in Italy, had a variable age at
onset of proteinuria (1 to 641 … onset of proteinuria: at 300 days in one patient with podocin …

… Recessive NPHS2 (podocin) mutations account for up to … mutation. Given these clinical
implications, we examined the role of NPHS2 mutations in a cohort of patients with adult-onset …

… nephrotic syndrome, we screened 19 families with early-onset SRNS for mutations in
NPHS2 and WT1 as a prelude to whole exome sequencing. We identified three patients with …

… podocin mutations performed in Turkey after the discovery of this protein in 2000, we found
3 patients who presented a complex haplotype with double mutations “… with onset within the …

… Despite significant heterogeneity within some of the comparisons, the results revealed
significantly higher risks of proteinuria in early-onset (onset age <16) individuals for five mutations …