- •We describe a new homozygous LDLRAP1 gene variant, c.143T>C; p.(Phe48Ser).
- •This variant was associated with ARH in a woman of central European ancestry.
- •This is the first ARH case found in Central European populations.
- •Homozygosity for LDLRAP1 c.143T>C led to early onset of CHD, stroke, and xanthomas.
- •Aggressive lipid-lowering therapy is not sufficient in LDLRAP1 deficiency.
We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.
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Published online: February 16, 2019
Accepted: February 10, 2019
Received: June 27, 2018
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