Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary FSGS type 4

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.

Systematic

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
Hereditary FSGS type 2
Hereditary FSGS type 3
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
Hereditary FSGS type 6
Hereditary FSGS type 7
ITGA9
LAMA5
NXF5

References:

1.

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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Update: Sept. 26, 2018