TABLE II.
Number of Patients With CHD as a Function of CdLS Severity and Mutation Status
| Total number (% of individuals in category) | |||||
|---|---|---|---|---|---|
| Mutation | Total with CHDb (% of total) | Mild | Moderate | Severe | Unknown |
| NIPBL missense | 18/53 (34) | 3 (13) | 8 (42) | 5 (82) | 2 |
| NIPBL other | 22/77 (29) | 2 (16) | 5 (33) | 15 (36) | 0 |
| SMC1A or 3 | 5/16 (31) | 5 (42) | 0 | 0 | 0 |
| Mutation negative | 51/173 (29) | 20 (26) | 21 (42) | 3 (27) | 7 |
| Mutation unknowna | 4/18 (22) | 1 | 1 | 1 | 1 |
| Total | 98/337 (30) | 29 | 35 | 24 | 10 |
CHD, congenital heart disease; CdLS, Cornelia de Lange syndrome.
a
These 18 individuals were CdLS patients with a CHD who were not screened for mutations in the CdLS genes.
b
This includes both the structural cardiac defects and the minor findings of PFO, PDA, innocent murmur.