Table 1.
Demographic and clinical characteristics of 280 probands with GDD/ID and/or MCA for which exome sequencing was pursued, and comparison between probands with and without a subsequent molecular diagnosis.
| Total (%) | Proband with molecular diagnosis | Proband without molecular diagnosis | p value | |
|---|---|---|---|---|
| Number of cases (%) | 280 | 109 (38.9) | 171 (61.1) | |
| Age of proband, mean (SD) years | 9.3 (10.1) | 10.2 (10.6) | 8.8 (9.7) | 0.298 |
| Adult proband (> 18 years), N (%) | 44 (15.7) | 20 (18.3) | 24 (14.0) | 0.334 |
| Sex, N (%) | ||||
| Male | 176 (62.9) | 59 (54.1) | 117 (68.4) | 0.016 |
| Female | 104 (37.1) | 50 (45.9) | 54 (31.6) | |
| Paternal age at birth, mean (SD) years | 34.3 (6.1) | 35.1 (6.5) | 33.8 (5.9) | 0.115 |
| Maternal age at birth, mean (SD) years | 31.6 (5.4) | 32.2 (5.3) | 31.3 (5.4) | 0.216 |
| Jewish origin, N (%) | 276 (98.6) | 106 (97.2) | 170 (99.4) | 0.303 |
| Consanguinity, N (%) | 11 (3.9) | 4 (3.7) | 7 (4.1) | 1.00 |
| ES format, N (%) | 0.395 | |||
| Trio | 252 (90.0) | 101 (92.7) | 151 (88.3) | |
| Quartet | 22 (7.9) | 7 (6.4) | 15 (8.8) | |
| Duo | 6 (2.1) | 1 (0.9) | 5 (2.9) | |
| Cases with VUS, N (%) | 74 (26.4) | 16 (14.7) | 58 (33.9) | < 0.001 |
| Multiple-affected family (first degree), N (%) | 54 (19.3) | 10 (9.2) | 44 (25.7) | 0.001 |
| GDD/ID, N (%) | 252 (90.0) | 99 (90.8) | 153 (89.5) | 0.713 |
| MCA, N (%) | 64 (22.9) | 21 (19.3) | 43 (25.1) | 0.253 |
| Epilepsy, N (%) | 128 (45.7) | 55 (50.5) | 73 (42.7) | 0.203 |
| ASD, N (%) | 75 (26.8) | 23 (21.1) | 52 (30.4) | 0.086 |
| Microcephaly, N (%) | 77 (27.5) | 26 (23.9) | 51 (29.8) | 0.275 |
| Abnormal brain MRI findings, N (%) | 84 (30.0) | 30 (27.5) | 54 (31.6) | 0.470 |
| Premature birth, N (%) | 43 (15.4) | 10 (9.2) | 33 (19.3) | 0.022 |
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.