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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.

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Conflict of interest statement

The authors declare no conflict of interest.

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