Table 3.
Comparison of HPE subtypes between patients with functionally significant mutations in or deletions of TGIF and previously studied cohorts of patients with non-syndromic, non-chromosomal HPE
| HPE type | Intragenic TGIF mutations (probands) n (%) | TGIF deletions (probands) n (%) | NIH, Muenke Laba n (%) | Lazaro et al., 2004a n (%) | Orioli and Castilla, 2007b n (%) | Solomon et al, 2009b (ZIC2a n (%) | Lacbawan et al, 2009 (SIX3)a n (%) |
|---|---|---|---|---|---|---|---|
| Alobar | 1(17) | 2(33) | 10(13) | 15 (22) | 33 (40) | 27 (34) | 15 (37) |
| Semilobar | 2(33) | 2(33) | 45 (60) | 31 (45) | 36 (43) | 42 (53) | 20 (49) |
| Lobar | 3(50) | 2(33) | 20 (27) | 23 (33) | 14(17) | 10(13) | 6(15) |
| Total | 6 | 6 | 69 | 69 | 83 | 79 | 41 |
| Comparison vs. TGIF cohort | N/A | N/A | mutations: p = 0.4083 deletions: p = 0.3211 | mutations: p = 0.7127 deletions: p = 0.7804 | mutations: p = 0.1269 deletions: p = 0.5961 | mutations: p = 0.0491* deletions: p = 0.3476 | mutations: p = 0.1167 deletions: p = 0.5073 |
*
Statistically significant differences; N/A = not applicable.
a
These cohorts include both living and deceased patients (liveborn infants and fetuses) with non-chromosomal, non-syndromic HPE.
b
This cohort includes only liveborn patients with HPE, including chromosomal and syndromic cases.