TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype
Results Three heterozygous missense mutations (c. 374A> G_p. N125S, c. 653A> T_p.
H218L, c. 2684G> T_p. R895L) were identified. The first new mutation, p. H218L, was found
in a 18-year-old boy who presented a severe form of FSGS at the age of 8 years. The
second, p. R895L, a new de novo mutation, was identified in a girl with collapsing
glomerulosclerosis at the age of 2 years. The former mutation, p. N125S, was found in two
siblings with early-onset steroid-resistant nephrotic syndrome (SRNS) at the ages of 4 and …
H218L, c. 2684G> T_p. R895L) were identified. The first new mutation, p. H218L, was found
in a 18-year-old boy who presented a severe form of FSGS at the age of 8 years. The
second, p. R895L, a new de novo mutation, was identified in a girl with collapsing
glomerulosclerosis at the age of 2 years. The former mutation, p. N125S, was found in two
siblings with early-onset steroid-resistant nephrotic syndrome (SRNS) at the ages of 4 and …