Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

This study presents the first extensive molecular characterization of a dual FH-sitosterolemia phenotype. It emphasizes the critical role of genomic diagnostics in managing complex lipid disorders and supports personalized medicine approaches, especially in consanguineous populations where blended phenotypes may be underrecognized.

Authors

Institutions

Publication Details

Journal
Frontiers in Genetics
Published
2025-10-15
DOI
https://doi.org/10.3389/fgene.2025.1679594
Primary Topic
Cholesterol and Lipid Metabolism
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

Ibrahim Fallatah, Dhayf Alrahman Mutawwam, Rania Hassan, Fai Alsubhi et al.
Frontiers in Genetics
Cholesterol and Lipid Metabolism
article

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

Ibrahim Fallatah, Dhayf Alrahman Mutawwam, Rania Hassan, Fai Alsubhi, Hassan Alhafaf, Ali Jaber Alhagawy, Abdulrahman Hummadi, Babajan Banaganapalli, Naji J. Aljohani, Turki Algohani, Rawan Alharbi, Madi Talal, Mohammed Y Daghriry
article en

Abstract

This study presents the first extensive molecular characterization of a dual FH-sitosterolemia phenotype. It emphasizes the critical role of genomic diagnostics in managing complex lipid disorders and supports personalized medicine approaches, especially in consanguineous populations where blended phenotypes may be underrecognized.

Frontiers in GeneticsVol. 16
Alfaisal University (SA), King Abdulaziz University (SA), Diabetes Australia (AU), King Fahd Medical City (SA), King Abdulaziz Medical City (SA), National Guard Health Affairs (SA), Jazan University (SA)
Openalex Percentile: Top 54%
Cholesterol and Lipid Metabolism
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia — Ibrahim Fallatah, Dhayf Alrahman Mutawwam, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS