Table 1 Summary of the biochemical and molecular findings among the family members
Family member | Clinical FH diagnosis | TC mmol/lL | TG mmol/L | HDL-C mmol/L | LDL-C mmol/L | dbSNP ID | Predicted effect |
|---|---|---|---|---|---|---|---|
Proband | Definite FH | 10.0 | 1 | 1.5 | 8.6 | LDLR: rs121908026 | Probably Damaging |
Older brother (Hypercholesterolemic) | Probable FH | 9.6 | 0.6 | 0.3 | 7 | LDLR: rs121908026 | Probably Damaging |
Grandfather | Definite FH | 9.3 | 1.4 | 1 | 7.7 | LDLR: rs121908026 | Probably Damaging |
Twin, youngest brother | Definite FH | 10.6 | 0.7 | 1.8 | 8.6 | LDLR: rs121908026 | Probably Damaging |
ABCG8: rs11887534 | Possibly Damaging | ||||||
Twin, youngest brother | Definite FH | 10.8 | 0.6 | 1.7 | 8.8 | LDLR: rs121908026 | Probably Damaging |
ABCG8: rs11887534 | Possibly Damaging | ||||||
Eldest brother (Normolipaemic) | Possible FH | 5.2 | 0.4 | 2.6 | 2.4 | LDLR: rs2738442 | Benign |
ABCG8: rs11887534 | Possibly Damaging | ||||||
Mother | Possible FH | 5.3 | 0..9 | 2 | 2.8 | LDLR: rs2738442 | Benign |
ABCG8: rs11887534 | Possibly Damaging |