Genetika familiární hypercholesterolemie: aktualizovaná kritéria pro interpretaci variant v genu LDLR

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


Year of publication 2021
Type Article in Periodical
Magazine / Source Athero Review
MU Faculty or unit

Faculty of Medicine

Keywords LDLR; familial hypercholesterolemia evaluation criteria; pathogenic variants
Description 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.

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