Hereditary FSGS type 2 is an autosomal dominant disorder caused by mutations of the TRPC6 gene. To the moment it is not clear yet whether exclusively gain-of-function mutations can cause that disorder or loss-of-funtion mutations also.
1. |
Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. |
2. |
Riehle M et al. (2016) TRPC6 G757D Loss-of-Function Mutation Associates with FSGS. |
3. |
OMIM.ORG article Omim 603965 |