Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Oct 14;13(10):1492.
doi: 10.3390/jpm13101492.

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice

Valentina V Miroshnikova  1   2 , Petr A Vasiluev  3 , Svetlana V Linkova  4 , Vladislav M Soloviov  5 , Olga N Ivanova  3 , Ekaterina R Tolmacheva  6 , Vasilisa Y Udalova  7 , Polina V Baranova  3 , Darya Y Aleksandrova  3 , Tatiana V Strokova  8 , Irina M Miklashevich  5 , Artem D Izumchenko  1   2 , Kseniia V Dracheva  1   2 , Maria N Grunina  2 , Nataliya N Smirnova  1 , Anna S Kuchina  3 , Ekaterina Y Zakharova  3 , Sofya N Pchelina  1   2
Affiliations
Case Reports

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice

Valentina V Miroshnikova et al. J Pers Med. .

Abstract

Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and one boy aged 14 years old) were initially diagnosed with hypercholesterinemia. Next-generation sequencing (NGS) revealed homozygous (p.Leu572Pro/p.Leu572Pro) and compound (p.Leu572Pro/p.Gly512Arg and p.Leu572Pro/p.Trp361*) variants in the ABCG8 gene that allowed for the diagnosis of sitosterolemia. Two patients whose blood phytosterol levels were estimated before the diet demonstrated high levels of sitosterol/campesterol (69.6/29.2 and 28.3/12.4 μmol/L, respectively). Here, we demonstrate that NGS-testing led to the proper diagnosis that is essential for patients' management. The variant p.Leu572Pro might be prevalent among patients with sitosterolemia in Russia.

Keywords: ABCG8 variants; NGS; phytosterols; sitosterolemia.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Rocha V.Z., Tada M.T., Chacra A.P.M., Miname M.H., Mizuta M.H. Update on Sitosterolemia and Atherosclerosis. Curr. Atheroscler. Rep. 2023;25:181–187. doi: 10.1007/s11883-023-01092-4. - DOI - PubMed
    1. Patel S.B., Graf G.A., Temel R.E. ABCG5 and ABCG8: More than a defense against xenosterols. J. Lipid Res. 2018;59:1103–1113. doi: 10.1194/jlr.R084244. - DOI - PMC - PubMed
    1. Yoo E.G. Sitosterolemia: A review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann. Pediatr. Endocrinol. Metab. 2016;21:7–14. doi: 10.6065/apem.2016.21.1.7. - DOI - PMC - PubMed
    1. Frederiksen T.C., Mortensen M.B., Kanstrup H.L. Seventeen years of misdiagnosis in rare dyslipidaemia: A case report of sitosterolaemia in a young female. Eur. Heart J. Case Rep. 2021;5:ytab188. doi: 10.1093/ehjcr/ytab188. - DOI - PMC - PubMed
    1. Limonova A.S., Ershova A.I., Meshkov A.N., Kiseleva A.V., Divashuk M.G., Kurkina M.V., Drapkina O.M. Case Report: Next Generation Sequencing in Clinical Practice—A Real Tool for Ending the Protracted Diagnostic Odyssey. Front. Cardiovasc. Med. 2022;8:778961. doi: 10.3389/fcvm.2021.778961. - DOI - PMC - PubMed

Publication types

LinkOut - more resources