Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients

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dc.contributor.authorKaya Z.
dc.contributor.authorSal E.
dc.contributor.authorYorulmaz A.
dc.contributor.authorHsieh Y.-P.
dc.contributor.authorGülen H.
dc.contributor.authorYıldırım A.T.
dc.contributor.authorNiu D.-M.
dc.contributor.authorTekin A.
dc.date.accessioned2024-07-22T08:05:38Z
dc.date.available2024-07-22T08:05:38Z
dc.date.issued2021
dc.description.abstractBACKGROUND: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphate-binding cassette genes (ABCG) 5 and 8. OBJECTIVE: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients. METHODS: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled. Sterol levels were measured by gas chromatography and genetic studies were performed using Sanger sequencing. Individuals were diagnosed with sitosterolemia if they were found to have frankly elevated sitosterol level >15 μg/mL and/or pathogenic variants of the ABCG5/ABCG8. RESULTS: The seven probands and their six relatives were diagnosed with frank sitosterolemia, and all these patients had hematologic abnormalities. The remaining seven relatives were asymptomatic heterozygous carriers. Three novel variants in the ABCG5 gene (c.161G>A, c.1375C>T, IVS10–1G>T), one novel variant in the ABCG8 gene (c.1762G>C) and one known variant in the ABCG5 gene (c.1336 C>T) were identified. No variant was identified in one case. The mean sitosterol level was significantly higher and mean platelet count was significantly lower in patients with homozygous variants compared to heterozygous variants (p<0.05, for all). Diets low in plant sterols were recommended for 13 symptomatic cases. Four homozygotes received ezetimibe, and their splenomegaly, anemia, and thrombocytopenia completely resolved except one. CONCLUSION: The five pathogenic variants identified in this study indicate the genetic heterogeneity of sitosterolemia in Turkish population. Patients with unexplained hematologic abnormalities (specifically macrothrombocytopenia) should have their sterol level measured as initial testing. Ezetimibe can be a good choice for sitosterolemia. © 2021
dc.identifier.DOI-ID10.1016/j.jacl.2021.07.001
dc.identifier.issn19332874
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13207
dc.language.isoEnglish
dc.publisherElsevier Ltd
dc.subjectAdolescent
dc.subjectAdult
dc.subjectATP Binding Cassette Transporter, Subfamily G, Member 5
dc.subjectATP Binding Cassette Transporter, Subfamily G, Member 8
dc.subjectBiomarkers
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectChromatography, Gas
dc.subjectFemale
dc.subjectGenotype
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectHypercholesterolemia
dc.subjectIntestinal Diseases
dc.subjectLipid Metabolism, Inborn Errors
dc.subjectLipoproteins
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectPhenotype
dc.subjectPhytosterols
dc.subjectSequence Analysis, DNA
dc.subjectSitosterols
dc.subjectTurkey
dc.subjectYoung Adult
dc.subjectABC transporter G5
dc.subjectABC transporter G8
dc.subjectezetimibe
dc.subjectphytosterol
dc.subjectsitosterol
dc.subjectABCG5 protein, human
dc.subjectABCG8 protein, human
dc.subjectbiological marker
dc.subjectgamma-sitosterol
dc.subjectlipoprotein
dc.subjectphytosterol
dc.subjectsitosterol derivative
dc.subjectadult
dc.subjectanemia
dc.subjectArticle
dc.subjectclinical article
dc.subjectcontrolled study
dc.subjectdiet
dc.subjectfemale
dc.subjectgas chromatography
dc.subjectgene frequency
dc.subjectgenetic association
dc.subjectgenetic heterogeneity
dc.subjectgenetic variability
dc.subjecthematologic disease
dc.subjectheredity
dc.subjectheterozygote
dc.subjecthomozygote
dc.subjecthuman
dc.subjectmale
dc.subjectplatelet count
dc.subjectSanger sequencing
dc.subjectsitosterolemia
dc.subjectsplenomegaly
dc.subjectstomatocytosis
dc.subjectthrombocytopenia
dc.subjectTurk (people)
dc.subjectadolescent
dc.subjectblood
dc.subjectchild
dc.subjectdisorders of lipid and lipoprotein metabolism
dc.subjectDNA sequence
dc.subjectenteropathy
dc.subjectgenetics
dc.subjectgenotype
dc.subjecthypercholesterolemia
dc.subjectmiddle aged
dc.subjectmutation
dc.subjectphenotype
dc.subjectpreschool child
dc.subjectprocedures
dc.subjectturkey (bird)
dc.subjectyoung adult
dc.titleGenetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
dc.typeArticle

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