A Familial Analysis of Familial Hyperlipidemia Attributed to the Y2184C Mutation of the APOB Gene.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2025-01-01 DOI:10.7754/Clin.Lab.2024.240751

Luping Lou, Chunqin Lu

{"title":"A Familial Analysis of Familial Hyperlipidemia Attributed to the Y2184C Mutation of the APOB Gene.","authors":"Luping Lou, Chunqin Lu","doi":"10.7754/Clin.Lab.2024.240751","DOIUrl":null,"url":null,"abstract":"Background: Familial hyperlipidemia (familial hypercholesterolemia, FH) is an autosomal genetic disorder. It includes type heterozygous familial hyperlipidemia (heterozygous familial hypercholesterolemia). HeFH is mainly caused by mutations in the LDLR, APOB, and PCSK9 genes and is characterized by elevated plasma low-density lipoprotein cholesterol levels.Methods: We present a case of HeFH attributed to an APOB gene mutation. The whole-genome DNA of peripheral blood was extracted from the blood of the proband and their parents, and the exons of peripheral blood were sequenced through high-throughput sequencing. The selected mutation sites were verified by sequencing using the Sanger method.Results: A heterozygous mutation, c.6551A>G (p.Y2184C), in exon 26 of the APOB gene (Chr2-21233189) was identified in both the proband and the mother. Combined with the clinical features, HeFH caused by this mutation was initially considered.Conclusions: For patients with a high degree of clinical suspicion of FH, a definitive diagnosis should be established through genetic testing, enabling patients to receive early treatment and effectively prevent the occurrence of cardiovascular events.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 1","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.240751","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Familial hyperlipidemia (familial hypercholesterolemia, FH) is an autosomal genetic disorder. It includes type heterozygous familial hyperlipidemia (heterozygous familial hypercholesterolemia). HeFH is mainly caused by mutations in the LDLR, APOB, and PCSK9 genes and is characterized by elevated plasma low-density lipoprotein cholesterol levels.

Methods: We present a case of HeFH attributed to an APOB gene mutation. The whole-genome DNA of peripheral blood was extracted from the blood of the proband and their parents, and the exons of peripheral blood were sequenced through high-throughput sequencing. The selected mutation sites were verified by sequencing using the Sanger method.

Results: A heterozygous mutation, c.6551A>G (p.Y2184C), in exon 26 of the APOB gene (Chr2-21233189) was identified in both the proband and the mother. Combined with the clinical features, HeFH caused by this mutation was initially considered.

Conclusions: For patients with a high degree of clinical suspicion of FH, a definitive diagnosis should be established through genetic testing, enabling patients to receive early treatment and effectively prevent the occurrence of cardiovascular events.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

归因于 APOB 基因 Y2184C 突变的家族性高脂血症分析。

背景：家族性高脂血症（家族性高胆固醇血症，FH）是一种常染色体遗传疾病。它包括杂合型家族性高脂血症（杂合型家族性高胆固醇血症）。HeFH 主要由 LDLR、APOB 和 PCSK9 基因突变引起，以血浆低密度脂蛋白胆固醇水平升高为特征：我们报告了一例因 APOB 基因突变导致的 HeFH 病例。方法：我们发现了一例因 APOB 基因突变而导致的 HeFH 病例。我们从病例及其父母的血液中提取了外周血全基因组 DNA，并通过高通量测序对外周血的外显子进行了测序。采用 Sanger 方法对所选突变位点进行测序验证：结果：在患者及其母亲的 APOB 基因（Chr2-21233189）第 26 号外显子中发现了一个杂合突变，即 c.6551A>G (p.Y2184C)。结合临床特征，初步认为该基因突变导致了 HeFH：结论：对于临床上高度怀疑患有先天性心脏病的患者，应通过基因检测明确诊断，使患者及早接受治疗，有效预防心血管事件的发生。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.