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. Author manuscript; available in PMC: 2013 Mar 17.
Published in final edited form as: Annu Rev Physiol. 2011 Nov 4;74:299–323. doi: 10.1146/annurev-physiol-020911-153238

Table 2.

Human mutations affecting podocyte structure and function

Protein Gene Associated disease Mode of inheritance Clinical description Reference
Nephrin NPHS1 Congenital nephrotic syndrome of the Finnish type (CNF) Autosomal recessive (AR) Often massive proteinuria in utero and nephrotic syndrome postnatally; resistant to treatment 25
Podocin NPHS2 Corticosteroid-resistant nephrotic syndrome (SRNS) AR Variable onset and severity of nephropathy; resistance to corticosteroid therapy 29
Coenzyme Q10 biosynthesis mono-oxygenase 6 COQ6 Corticosteroid-resistant nephrotic syndrome (SRNS) AR Early-onset SNRS with sensorineural deafness 110
PLCε1 PLCE1 Inherited nephrotic syndrome AR Nephrosis, diffuse mesangial sclerosis, and end-stage kidney disease (ESKD); may be reversible after early treatment 109
Laminin β2 LAMB2 Pierson’s syndrome Occasionally oligosymptomatic disease variants AR Onset of nephrosis postnatally, mesangial sclerosis, microcoria 116
α-Actinin-4 ACTN4 Focal segmental glomerulosclerosis (FSGS) Autosomal dominant (AD) Mild proteinuria in adolescence, slow progression to FSGS and ESKD in adulthood 62
TRPC6 TRPC6 FSGS AD Proteinuria in adolescence and early adulthood; progression to FSGS and ESKD; pediatric/sporadic cases reported 48, 100
MYH9 MYH9 Epstein syndrome Fechtner syndrome AD Thrombocytopenia, hearing defects, and progressive proteinuria 126
LMX1B LMX1B Nail-patella syndrome AD Variable penetrance, nephrotic syndrome, and skeletal/nail abnormalities in children 115, 196
WT1 WT1 Denys-Drash syndrome (DDS) Frasier’s syndrome (FS) AD Male pseudohermaphroditism with progressive nephropathy and ESKD; development of FSGS by 3 years (DDS) or later (FS) 197, 198
CD2AP CD2AP Sporadic FSGS N/A FSGS in African-American patients 111
Synaptopodin SYNPO Sporadic FSGS N/A FSGS in Chinese patients 114
Myosin 1E MYO1E Childhood FSGS N/A Progressive, steroid-resistant FSGS 117, 118
Apolipoprotein L-1 APOL1 Sporadic FSGS N/A Progressive proteinuria, FSGS, and ESKD in African-American patients 127
Glypican 5 GPC5 Acquired nephrotic syndrome N/A Progressive proteinuria and ESKD 128