Table 2.
INF2-related disease cases and mutations grouped by exon
| Exon (%) | 2 | 3 | 4 | 6 | Total | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Cases | Mutations | Cases | Mutations | Cases | Mutations | Cases | Mutations | Cases | Mutations | |
| 40 (29.0) | 30 (44.1) | 19 (13.8) | 14 (20.6) | 74 (53.6) | 20 (29.4) | 5 (3.6) | 4 (5.9) | 138 | 68 | |
| Disease | ||||||||||
| FSGS | 15 | 12 | 10 | 9 | 67 | 20 | 5 | 4 | 97 | 45 |
| FSGS + CMT | 21 | 16a | 8 | 5a | 4 | 2a | 0 | 0 | 33 | 23 |
| Other | 4 | 4 | 1 | 1 | 3 | 3b | 0 | 0 | 8 | 8 |
| Inheritance | ||||||||||
| Familial | 18 | 15 | 16 | 12 | 62 | 18 | 3 | 3 | 99 | 48 |
| Sporadic | 20 | 15c | 3 | 3c | 7 | 4c | 0 | 0 | 30 | 22 |
| Not determined | 2 | 3d | 0 | 0 | 5 | 4d | 2 | 2d | 9 | 9 |
aIncludes mutations (C104W, R106P, C151R; V181G, E184K) that can cause isolated FSGS and not only FSGS + CMT or FSGS/FSGS + CMT
bIncludes mutations (R177H, E184K, E220K) that can cause FSGS and not only “others”
cIncludes mutations (G114D, L132R, E184K, R218Q, E220K) that can cause familial disease and not only sporadic cases
dIncludes mutations (L42P, R106P, R177H, R218Q, E220K, S263A) that can cause sporadic or familial disease and not only “not determined” cases