Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hereditary FSGS type 4 is an autosomal disease with variable gene-dosage dependent penetrance. This is common among patients of Sub-Saharan ancestry. Two mutations known so far cause the disease. Interestingly these two mutations also cause resistance against Trypanosoma infections, which explaines why they are so common in endemic areas.
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Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 
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| 2. |
Ko WY et al. (2013) Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations.
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| 3. |
Kao WH et al. (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans.
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| 4. |
Kopp JB et al. (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.
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| 5. |
OMIM.ORG article Omim 612551
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