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. 2019 Jan 29;7:8. doi: 10.3389/fped.2019.00008

Table 1.

Monogenic causes of SSNS.

Gene Locus Type of mutation Protein localization Associated with SRNS Extra renal manifestations References
EMP2 16p13 Missense, Truncating Podocyte Y No (60)
EXT1 8q23 Missense Glomerular basement membrane N Multiple exostoses (61)
FOXP3 Xp11 Missense Immune cells Y Immunodeficiency, Polyendocrinopathy, Enteropathy (62)
KANK1 9p24 Missense Podocyte Y No (63)
KANK2 19p13 Missense Podocyte Y No (63)
NPHS1 19q12 Missense Podocyte and slit diaphragm Y No (64), (65)
PLCE1 10q23 Truncating Podocyte and slit diaphragm Y No (66)
MAGI2 7q21 Truncating Podocyte Y Neurologic impairment (67)
TNS2 12q13 Missense Podocyte Y Asthma, Hypertension, Short Stature (67)
DLC1 8p22 Missense, Truncating Podocyte Y Hypertension, Seizures, Visual Disturbance (67)
CDK20 9q22 Missense Podocyte N No (67)
ITSN1 21q22 Missense Podocyte Y No (67)
ITSN2 2p23 Missense Podocyte N No (67)