Hereditary FSGS type 4
Hereditary FSGS type 4 is an autosomal disease with variable inheritance pattern. This is common among patients of Sub-Saharan ancestry. Genome wide association studies suggested an association with the MYH9 locus which was plausible as some renal disorders associated with MYH9 mutations are already described. However, more recent data show that variants and probably also mutations of the neighboring APOL1 gene are responsible for that disorder. These variations cause resistance against Trypanosoma infections, which explaines why they are so common in endemic areas. To the moment it is not yet decided whether there exist MYH9 mutation that may cause FSGS as well.
Systematic
References:
| 1. |
Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. [^] |
| 2. |
Ko WY et al. (2013) Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations. [^] |
| 3. |
Kao WH et al. (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans. [^] |
| 4. |
Kopp JB et al. (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. [^] |
