Table 3.
Comparison of phenotypes between the present patients with INF2 p.Arg214Cys and previously reported patients
| Family | Countries/region | Familial/Sporadic | cDNA Mut | Prot Mut | Exon | Number of cases with proteinuria | Proteinuria (g/L) median | Histology | CMT | Number of healthy cases | Age at disease onset | Number of cases of ESRD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Europe [4] | Familial | c.640C > T | p.Arg214Cys | 4 | 5 | / | FSGS | 0 | 1 | 5–44 | 3 |
| 2 | Europe [4] | Familial | c.640C > T | p.Arg214Cys | 4 | 2 | / | FSGS | 0 | 0 | 16–37 | 2 |
| 3 | Australia [17] | Familial | c.640C > T | p.Arg214Cys | 4 | 2 | / | FSGS | 0 | 0 | 21-? | 1 |
| 4 | Italian [9] | Familial | c.640C > T | p.Arg214Cys | 4 | 3 | 1.6 | FSGS | 0 | 1 | 15–26 | 1 |
| 5 | China | Familial | c.640C > T | p.Arg214Cys | 4 | 2 | >3.5 | 0 | 1 | 23–40 | 2 |
CMT Charcot-Marie-Tooth disease, ESRD End-stage renal disease