Familial Hypercholesterolemia (FH) is one of the most frequent dyslipidemias, the autosomal dominant form of which is primarily caused by mutations in the LDL receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, although in around 20% of patients the genetic cause remains unidentified. Genetic testing has notably improved the identification of patients suffering from FH, the most frequent cause of which is the presence of mutations in the LDLR gene. Although more than 1200 different mutations have been identified in this gene, about 80% are recognized to be pathogenic. We aim to overview the current methods used to perform the functional characterization of mutations causing FH and to highlight the conditions requiring a functional characterization of the variant in order to obtain a diagnostic report.

Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: Integration and evolution of genetic diagnosis / DI TARANTO, MARIA DONATA; D'Agostino, MARIA NICOLETTA; Fortunato, Giuliana. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 0939-4753. - 25:11(2015), pp. 979-87-987. [10.1016/j.numecd.2015.06.007]

Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: Integration and evolution of genetic diagnosis

DI TARANTO, MARIA DONATA;D'AGOSTINO, MARIA NICOLETTA;FORTUNATO, GIULIANA
2015

Abstract

Familial Hypercholesterolemia (FH) is one of the most frequent dyslipidemias, the autosomal dominant form of which is primarily caused by mutations in the LDL receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, although in around 20% of patients the genetic cause remains unidentified. Genetic testing has notably improved the identification of patients suffering from FH, the most frequent cause of which is the presence of mutations in the LDLR gene. Although more than 1200 different mutations have been identified in this gene, about 80% are recognized to be pathogenic. We aim to overview the current methods used to perform the functional characterization of mutations causing FH and to highlight the conditions requiring a functional characterization of the variant in order to obtain a diagnostic report.
2015
Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: Integration and evolution of genetic diagnosis / DI TARANTO, MARIA DONATA; D'Agostino, MARIA NICOLETTA; Fortunato, Giuliana. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 0939-4753. - 25:11(2015), pp. 979-87-987. [10.1016/j.numecd.2015.06.007]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/613225
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