Genetics of familial hypercholesterolemia: updated criteria for LDLR gene variant interpretation

Czech version

Authors: Lukáš Tichý ¹; Kateřina Konečná ²; Tomáš Freiberger ^3,4
Authors‘ workplace: Centrum molekulární biologie a genetiky, Interní hematologická a onkologická klinika LF MU a FN Brno ¹; Národní centrum pro výzkum biomolekul, Přírodovědecká fakulta MU, Brno ²; Centrum kardiovaskulární a transplantační chirurgie Brno ³; Ústav klinické imunologie a alergologie LF MU a FN u sv. Anny v Brně ⁴
Published in: AtheroRev 2021; 6(3): 168-172
Category:

Overview

Familial hypercholesterolemia is one of the most common metabolic diseases. It is mostly associated with pathogenic variants in the LDLR gene. Public databases contain more than 3,000 sequence variants that have been reported in this gene worldwide. Despite crucial technological advances in molecular biology, the interpretation of detected sequence variants in relation to the specific evaluated clinical phenotype in a particular patient remains a key task. Within an international expert group, criteria for evaluation of causality of sequence variants in the LDLR gene were developed to unify different interpretation algorithms. These criteria should then be applied to the clinical and diagnostic practice.

Keywords:

LDLR – familial hypercholesterolemia – evaluation criteria – pathogenic variants

Sources

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