Table 1.

Gene mutations that are causally linked to focal segmental glomerulosclerosis (FSGS)

Gene symbol	Gene locus	Protein	Mode of inheritance	Renal manifestations	Extrarenal manifestations
NPHS2	1q25.31	Podocin	Autosomal recessive	Minimal change nephropathy, FSGS	None
ACTN4	19q13	Alpha-actinin-4	Autosomal dominant	FSGS	None
TRPC6	11q21.22	Transient receptor potential cation channel 6	Autosomal dominant	FSGS	None
PLCE1	10q23.24	Phospholipase C epsilon	Autosomal recessive	Diffuse mesangial sclerosis and FSGS	None
WT1	11p13	Wilm’s tumor suppressor protein	Autosomal dominant, de novo mutation	Diffuse mesangial sclerosis and FSGS	Genitourinary abnormalities
LMXB1	9q34.1	Lim homeobox transcription factor 1β	Autosomal dominant	FSGS	Dystrophic nails, absent or malformed patella
tRNALeu	Mitochondrial genome	NA	Maternal	FSGS, tubulointerstitial nephritis	Muscle and brain disease, lactic acidosis, deafness, diabetes mellitus
COQ2	4q21.22	Coenzyme Q2 homolog, prenyltransferase	Autosomal recessive	FSGS	Neurologic and muscle abnormalities
ITGB4	17q25.1	Integrin β4	Autosomal recessive	FSGS	Epidermolysis bullosa