A novel TRPC6 mutation that causes childhood FSGS.

ABSTRACT:

Background

TRPC6, encoding a member of the transient receptor potential (TRP) superfamily of ion channels, is a calcium-permeable cation channel, which mediates capacitive calcium entry into the cell. Until today, seven different mutations in TRPC6 have been identified as a cause of autosomal-dominant focal segmental glomerulosclerosis (FSGS) in adults.

Methodology/principal findings

Here we report a novel TRPC6 mutation that leads to early onset FSGS. We identified one family in whom disease segregated with a novel TRPC6 mutation (M132T), that also affected pediatric individuals as early as nine years of age. Twenty-one pedigrees compatible with an autosomal-dominant mode of inheritance and biopsy-proven FSGS were selected from a worldwide cohort of 550 families with steroi

SUBMITTER: Heeringa SF 

PROVIDER: S-EPMC2777406 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature