Table 1 Clinical data of the proband and their first-degree relatives
From: LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL
Family member | age | gender | TG (mmol/L) | Reference range (mmol/L) | TC (mmol/L) | Reference range (mmol/L) | LDL-C (mmol/L) | Reference range (mmol/L) | HDL-C (mmol/L) | Reference range (mmol/L) | Corneal arch | Xanthoma | history of atherosclerosis myocardial infarctions |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I1 | 65 | male | 0.82 | 0.00-1.70 | 2.34 | 3.00-5.70 | 1.55 | 1.89–3.37 | 0.69 | 1.03–1.55 | No | No | No |
I2 | 65 | female | 0.74 | 8.84 | 7.96 | 1.02 | No | No | Yes | ||||
II1 | 36 | male | 0.56 | 8.76 | 7.31 | 1.13 | No | No | Yes | ||||
II2 | 39 | male | 0.87 | 6.51 | 4.45 | 1.15 | No | No | Yes | ||||
III3 | 35 | female | 0.64 | 4.43 | 3.04 | 1.17 | No | No | No | ||||
III1 | 7 | male | 0.52 | 6.18 | 5.01 | 1.05 | No | No | No |