Table 2.
Comparison between probands found to harbor a disease-causing de novo variant and all other probands (undiagnosed or diagnosed with non de novo variant).
| Proband with de novo variant | All other probands | p value | |
|---|---|---|---|
| Number of cases (%) | 91 (32.5) | 189 (67.5) | |
| Age of proband, mean (SD) years | 10.5 (10.7) | 8.8 (9.8) | 0.136 |
| Adult proband (> 18 years), N (%) | 16 (17.6) | 28 (14.8) | 0.551 |
| Sex, N (%) | |||
| Male | 46 (50.5) | 130 (68.8) | 0.003 |
| Female | 45 (49.5) | 59 (31.2) | |
| Paternal age at birth, mean (SD) years | 35.3 (6.5) | 33.8 (5.9) | 0.076 |
| Maternal age at birth, mean (SD) years | 32.6 (5.3) | 31.2 (5.3) | 0.061 |
| Jewish origin, N (%) | 91 (100) | 185 (97.9) | 0.308 |
| Consanguinity, N (%) | 0 | 11 (5.8) | 0.018 |
| ES format, N (%) | 0.067 | ||
| Trio | 87 (95.6) | 165 (87.3) | |
| Quartet | 4 (4.4) | 18 (9.5) | |
| Duo | 0 | 6 (3.2) | |
| Cases with VUS, N (%) | 13 (14.3) | 61 (32.3) | 0.001 |
| Multiple-affected family (first degree), N (%) | 6 (6.6) | 48 (25.4) | < 0.001 |
| GDD / ID, N (%) | 86 (94.5) | 166 (87.8) | 0.081 |
| MCA, N (%) | 16 (17.6) | 48 (25.4) | 0.145 |
| Epilepsy, N (%) | 50 (54.9) | 78 (41.3) | 0.031 |
| ASD, N (%) | 21 (23.1) | 54 (28.6) | 0.331 |
| Microcephaly, N (%) | 20 (22.0) | 57 (30.2) | 0.151 |
| Abnormal brain MRI findings, N (%) | 26 (28.6) | 58 (30.7) | 0.717 |
| Premature birth, N (%) | 8 (8.8) | 35 (18.5) | 0.034 |
Statistically significant values (p < 0.05) are given in bold.
ASD, autism spectrum disorder; ES, exome sequencing; GDD, global developmental delay; ID, intellectual disability; MCA, multiple congenital anomalies; MRI, magnetic resonance imaging; N, number; NDD, neurodevelopmental delay; SD, standard deviation; VUS, variant of uncertain significance.