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Table 1 Clinical and genetic characteristcs of the family with the c.344G > A: p.(Arg115His) variant in the LDLR gene

From: The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia

Family1 2      
CaseII-1II-2II-1II-2II-3III-1III-2III-3III-4
Clinical diagnosisFHFHFHFHnonFHnonFHnonFHnonFHFH
Age (y)22195249482119169
SexMFMMFFFMM
TC (mg/dL)280286350198167181157214
TG (mg/dL)4258239137262775371153
HDL-C (mg/dL)6866494570586844
LDL-C (mg/dL)2042082372361018211275139
Achilless tendon thicknessYesNoYesYesNoNoNoNoNo
XanthomaNoNoNoNoNoNoNoNoNo
Corneal AcrusNoNoYesYesNoNoNoNoNo
CADNoNoNoNoNoNoNoNoNo
LDLR pathogenic variantc.1567G > A: p.(Val523Met)c.1567G > A: p.(Val523Met)NoneNoneNoneNoneNoneNoneNone
LDLR variantNonec.344G > A: p.(Arg115His)NoneNonec.344G > A:  p.(Arg115His)c.344G > A: p.(Arg115His)NoneNonec.344G > A: p.(Arg115His)
PCSK9 pathogenic variantsNoneNoneNoneNoneNoneNoneNoneNoneNone
  1. CAD coronary artery disease
  2. Untreated serum lipid levels are shown