Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

doi:10.1016/j.jchromb.2026.124963

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences - 1 Apr 2026

Wu Shu-Fang, Xu Zi-Yan, Xie Li-Jun, Chen Li, Ye Ying, Wang Xiao-Lan, Zou Jing, Zhu Juan, Wang Ruo-Li, Luo Yi-Jia, Zhang Jian-Hui, Chen Qian, Ruan Dan-Dan, Zhou Yan-Feng, Gao Mei-Zhu, Zhang Li, Li Yun-Fei, Fang Zhu-Ting, Huang Fang-Meng, Liao Li-Sheng, Hu Bin, Zheng Zhi-Hai, Luo Jie-Wei, Lin Xin-Fu

Abstract excerpt

BACKGROUND: Sitosterolemia (STSL) is a rare autosomal recessive disorder caused by biallelic mutations in ABCG5 or ABCG8, which encode sterolin efflux transporters. Defective transport leads to intestinal hyperabsorption and reduced biliary excretion of plant sterols and cholesterol, causing their accumulation and heterogeneous phenotypes often misdiagnosed as familial hypercholesterolemia. METHODS: Whole-exome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP Binding Cassette Transporter, Subfamily G, Member 5

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Heterozygote

Share to Hypercholesterolemia

Share to Intestinal Diseases

Share to Lipid Metabolism, Inborn Errors

Share to Lipoproteins

Share to Phytosterols

Source

Open in PubMed

Identifiers

PMID: 41691973
DOI: 10.1016/j.jchromb.2026.124963

Genes

ABCG5
ABCG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.PMID 41691973Read ↗

Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.Semantic proximity Read ↗

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous MutationSemantic proximity Read ↗

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.Semantic proximity Read ↗

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.Semantic proximity Read ↗

Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.Semantic proximity Read ↗

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.Semantic proximity Read ↗

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.Semantic proximity Read ↗

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.Semantic proximity Read ↗

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Semantic proximity Read ↗

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.Semantic proximity Read ↗

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.