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The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia

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dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorsTurkyilmaz, Ayberk; Kurnaz, Erdal; Alavanda, Ceren; Yarali, Oguzhan; Kartal Baykan, Emine; Yavuz, Dilek; Cayir, Atilla; Ata, Pinar
dc.date.accessioned2022-03-12T22:58:01Z
dc.date.available2022-03-12T22:58:01Z
dc.date.issued2021
dc.description.abstractBackground: Monogenic hypercholesterolemia with Mendelian inheritance is a heterogeneous group of diseases that are characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) levels, and the most common form of this disorder is autosomal-dominant familial hypercholesterolemia (FH). Methods: A total of 104 index cases with the clinical diagnosis of FH were included in this study. Low-density lipoprotein receptor (LDLR) was sequenced using the Sanger sequencing method. Results: Pathogenic/likely pathogenic variants were detected in LDLR in 55 of the 104 cases (mutation detection rate = 52.8%). Thirty different variants were detected in LDLR, three of which were novel. The total cholesterol and LDL-C values of the patients in the group of premature termination codon (PTC) mutation carriers were significantly higher than those of the patients in the group of non-PTC mutation carriers. A total of 87 patients (17 pediatric and 70 adult cases) were diagnosed with cascade genetic screening. Statin treatment was recommended to all 87 patients and was accepted and initiated in 70 of these patients. Conclusions: This study is the largest patient cohort that evaluated FH cases in the Turkish population. Herein, we revealed the LDLR mutation spectrum for a Turkish population and compared the cases in the context of genotype-phenotype correlation. Genetic screening of individuals with suspected FH not only helps to establish their diagnosis, but also facilitates early diagnosis and treatment initiation in other family members through cascade screening.
dc.identifier.doi10.1089/met.2021.0004
dc.identifier.eissn1557-8518
dc.identifier.issn1540-4196
dc.identifier.pubmed33794673
dc.identifier.urihttps://hdl.handle.net/11424/237130
dc.identifier.wosWOS:000636492400001
dc.language.isoeng
dc.publisherMARY ANN LIEBERT, INC
dc.relation.ispartofMETABOLIC SYNDROME AND RELATED DISORDERS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectlow-density lipoprotein receptor
dc.subjectgenotype-to-phenotype
dc.subjectfamilial hypercholesterolemia
dc.subjectnovel variants
dc.titleThe Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia
dc.typearticle
dspace.entity.typePublication
local.avesis.id79a48f08-2de7-4074-8a1e-075e50b215c5
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages7
oaire.citation.endPage346
oaire.citation.issue6
oaire.citation.startPage340
oaire.citation.titleMETABOLIC SYNDROME AND RELATED DISORDERS
oaire.citation.volume19
relation.isAuthorOfPublication2ad76025-5a7e-429e-8f0a-3da70e4561a5
relation.isAuthorOfPublication.latestForDiscovery2ad76025-5a7e-429e-8f0a-3da70e4561a5

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