Table 1 Clinical and genetic characteristcs of the family with the c.344G > A: p.(Arg115His) variant in the LDLR gene
Family | 1 | 2 | |||||||
|---|---|---|---|---|---|---|---|---|---|
Case | II-1 | II-2 | II-1 | II-2 | II-3 | III-1 | III-2 | III-3 | III-4 |
Clinical diagnosis | FH | FH | FH | FH | nonFH | nonFH | nonFH | nonFH | FH |
Age (y) | 22 | 19 | 52 | 49 | 48 | 21 | 19 | 16 | 9 |
Sex | M | F | M | M | F | F | F | M | M |
TC (mg/dL) | 280 | 286 | 350 | – | 198 | 167 | 181 | 157 | 214 |
TG (mg/dL) | 42 | 58 | 239 | 137 | 262 | 77 | 53 | 71 | 153 |
HDL-C (mg/dL) | 68 | 66 | – | 49 | 45 | 70 | 58 | 68 | 44 |
LDL-C (mg/dL) | 204 | 208 | 237 | 236 | 101 | 82 | 112 | 75 | 139 |
Achilless tendon thickness | Yes | No | Yes | Yes | No | No | No | No | No |
Xanthoma | No | No | No | No | No | No | No | No | No |
Corneal Acrus | No | No | Yes | Yes | No | No | No | No | No |
CAD | No | No | No | No | No | No | No | No | No |
LDLR pathogenic variant | c.1567G > A: p.(Val523Met) | c.1567G > A: p.(Val523Met) | None | None | None | None | None | None | None |
LDLR variant | None | c.344G > A: p.(Arg115His) | None | None | c.344G > A: p.(Arg115His) | c.344G > A: p.(Arg115His) | None | None | c.344G > A: p.(Arg115His) |
PCSK9 pathogenic variants | None | None | None | None | None | None | None | None | None |