Highlights
- •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.
Abstract
We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central
European ancestry.
Keywords
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Article info
Publication history
Published online: February 16, 2019
Accepted:
February 10,
2019
Received:
June 27,
2018
Identification
Copyright
© 2019 National Lipid Association. All rights reserved.
