Heterozygous c.1730G >C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia

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dc.contributor.authorDoǧan, Mustafa
dc.contributor.authorKoksal, Mehmet
dc.contributor.authorEroz, Recep
dc.date.accessioned2026-06-19T06:32:07Z
dc.date.available2026-06-19T06:32:07Z
dc.date.issued2022
dc.departmentMalatya Turgut Özal Üniversitesi
dc.description.abstractIntroduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with a very rare heterozygous c.1730G >C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore, region-specific diagnostic criteria should be developed. Conclusion: We aimed to contribute to the literature on the development of diagnostic criteria by discussing the patient's condition with the clinical results. © 2022 Sciendo. All rights reserved.
dc.identifier.doi10.5937/afmnai39-35609
dc.identifier.endpage501
dc.identifier.issn0351-6083
dc.identifier.issue4
dc.identifier.scopus2-s2.0-85148103530
dc.identifier.scopusqualityQ3
dc.identifier.startpage496
dc.identifier.urihttps://doi.org/10.5937/afmnai39-35609
dc.identifier.urihttps://hdl.handle.net/20.500.12899/4997
dc.identifier.volume39
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherUniversity of Nis, Faculty of Medicine
dc.relation.ispartofActa Facultatis Medicae Naissensis
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_Scopus_20260612
dc.subjectCase Report
dc.subjectFamilial Hypercholesterolemia
dc.subjectLdlr Gene
dc.subjectXanthomas
dc.titleHeterozygous c.1730G >C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia
dc.typeArticle

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