Table 1. Characteristics of the studied patients with the novel nonsense variant p.(D445*) at exon 9 of the LDLR gene.
| Mutations and parameters | Patient 1 | Patient 2 | Normal range (mmol/l) |
|---|---|---|---|
| Nonsense variant in exon 9 of the LDLR gene | c.1332dup, p.(D445*) | c.1332dup, p.(D445*) | — |
| Silent variant in exon 10 of the LDLR gene | c.1413A>G, p.(=) rs5930, NM_001195798.1 | c.1413A>G, p.(=) rs5930, NM_001195798.1 | — |
| Sex (M/F) | F | F | — |
| Age (year) | 20 | 22 | — |
| Total cholesterol (mmol/l) | 18.111 | 15.133 | 3.8–7.5 |
| LDL-C (mmol/l) | 15.05 | 12.98 | 2.6–5.2 |
| Triglyceride (mmol/l) | 1.01 | 1.43 | 0.3–1.6 |
| HDL-C (mmol/l) | 0.95 | 1.12 | 0.8–2.1 |
| Medication | Ezetimibe, Acetazololamide, Simvastain | Ezetimibe, Simvastain | — |
| CHD history in parents | Yes | Yes | — |
Abbreviations: CHD, coronary heart disease; F, female; HDL-C, high-density lipoprotein-cholesterol; LDL-C, low-density lipoprotein-cholesterol; LDLR, low-density lipoprotein receptor; M, male.