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Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.

La Tunisie medicale - 5 Apr 2025

Mahjoub Faten, Kheriji Nadia, Ben Amor Nadia, Mizouri Ramla, Kefi Rym, Jamoussi Henda

Abstract excerpt

AIM: To determine pathogenic variants linked to Familial Hypercholesterolemia (FH) among a southern Tunisian family using Whole Exome Sequencing (WES). METHODS: Genomic DNA was extracted from whole blood among the index case as well as other affected and unaffected family members. Then, WES was performed only in the proband. The pathogenicity of genetic variation was assessed in a set of 13 genes reported as...

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Exome Sequencing
Ezetimibe
Genetic Testing
Hyperlipoproteinemia Type II
Mass Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41712822
DOI: 10.62438/tunismed.v103i4.5359

Genes

FH
LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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