TABLE 1.
Demographic, clinical, biochemical, and genetic characteristics of subjects with Smith-Lemli-Opitz syndrome and normal IQ
| Patient | Sex | Age1 | Cholesterol (mg/dL) | 7-DHC1 | (mg/dL) | Clinical severity score | Mutation |
|---|---|---|---|---|---|---|---|
| #1 | F | 24 months | 91 | 3.2 | 10 | IVS8-1G>C/V466 | |
| #2 | F | 28 months | 96 | 3.4 | 5 | S192F/Y462H | |
| #3 | F | 6 months | 128 | 2.4 | 5 | IVS8-1G>C, Q65Q, T77T, G424G | |
| #4 | M | 2 weeks | 85 | 2 | 10 | IVS8-1G>C/S169L | |
| #5 | F | 9 years | NA | NA | 5 | IVS8-1G>C/R450L | |
| #6 | F | 6 months | NA | NA | 5 | Q98X/T154M | |
| #7 | M | 11 months | 142 | 2.4 | 10 | Q98X/M1V | |
| #8 | F | 4 years | 141 | 3.9 | 5 | c.1396G>A/c.964-1G>C | |
| #9 | M | 14 years | 181 | 5.2 | 5 | c.452G>C/c.91C>T |
F: female; M: male.
1
at diagnosis.