Table 2.
Prevalence of structural brain anomalies according to the altered HPE-associated gene (among both probands and affected relatives)
| Gene | TGIF (n = 13)a n (%) | SHH(n = 103) n (%) | ZIC2 (n = 101) n (%) | SIX3 (n = 92) n (%) |
|---|---|---|---|---|
| Frank HPE (alobar, semilobar, lobar) | 6 (46) | 47 (46) | 88 (87) | 59 (64) |
| No frank HPE (microform or unaffected) | 7(54) | 56 (54) | 13(13) | 33 (36) |
| p value | N/A | 0.795 | 0.0013* | 0.3450 |
Frank HPE refers to the presence of structural brain anomalies (alobar, semilobar, lobar, or MIHV type HPE), in contrast to microform HPE. As there is not an available reference for patients with deletions of each gene, only patients with intragenic mutations were considered.
*
Significant p value (calculated by χ2 test with continuity correction); N/A = not applicable.
a
Number of probands + affected relatives with functionally significant intragenic mutations.