Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

G Caridi, R Bertelli, A Carrea, M Di Duca… - Journal of the …, 2001 - journals.lww.com
Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of
steroid-resistant nephrotic syndrome. As a result of a screening for these gene alterations in
a cohort of Italian patients with nonfamilial nephrotic syndrome and histologic focal
segmental glomerulosclerosis (FSGS), nine patients with NPHS2 gene homozygous or
composite heterozygous mutations were found. In addition to the previously described
defects, two novel mutations at exon 4 were identified (frameshift, L169P); four single …