一种新的MYBPC3功能缺失突变导致家族性肥厚性心肌病,并伴有家族内表型异质性。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Y Peng, J Xu, Y Wang, J Zhao, L Zhang, Z Chen, Y Jiang, S Banerjee, Z Zhang, M Bai
{"title":"一种新的MYBPC3功能缺失突变导致家族性肥厚性心肌病,并伴有家族内表型异质性。","authors":"Y Peng,&nbsp;J Xu,&nbsp;Y Wang,&nbsp;J Zhao,&nbsp;L Zhang,&nbsp;Z Chen,&nbsp;Y Jiang,&nbsp;S Banerjee,&nbsp;Z Zhang,&nbsp;M Bai","doi":"10.2478/bjmg-2022-0002","DOIUrl":null,"url":null,"abstract":"<p><p>Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death. Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder mostly caused by the mutations in genes encoding cardiac sarcomere. Germ-line mutations in <i>MYBPC3</i> causes hypertrophic cardiomyopathy (HCM). However, most of the HCM associated <i>MYBPC3</i> mutations were truncating mutations. Extreme phenotypic heterogeneity was observed among HCM patients with <i>MYBPC3</i> mutations. In this study, we investigated a Chinese man who presented with HCM. Whole exome sequencing identified a novel heterozygous deletion (c.3781_3785delGAGGC) in exon 33 of the <i>MYBPC3</i> in the proband. This heterozygous variant causes frameshift (p.Glu1261Thrfs*3), which predicted to form a truncated MYBPC3 protein. The proband's father also carries this variant in a heterozygous state while the proband's mother did not harbor this variant. Here, we report on a novel deletion in the <i>MYBPC3</i> gene associated with HCM. We also highlight the importance of whole exome sequencing for molecular diagnosis for the patients with familial HCM.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f0/fa/bjmg-25-071.PMC9985356.pdf","citationCount":"0","resultStr":"{\"title\":\"A Novel <i>Loss-of-function</i> Mutation in <i>MYBPC3</i> Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.\",\"authors\":\"Y Peng,&nbsp;J Xu,&nbsp;Y Wang,&nbsp;J Zhao,&nbsp;L Zhang,&nbsp;Z Chen,&nbsp;Y Jiang,&nbsp;S Banerjee,&nbsp;Z Zhang,&nbsp;M Bai\",\"doi\":\"10.2478/bjmg-2022-0002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death. Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder mostly caused by the mutations in genes encoding cardiac sarcomere. Germ-line mutations in <i>MYBPC3</i> causes hypertrophic cardiomyopathy (HCM). However, most of the HCM associated <i>MYBPC3</i> mutations were truncating mutations. Extreme phenotypic heterogeneity was observed among HCM patients with <i>MYBPC3</i> mutations. In this study, we investigated a Chinese man who presented with HCM. Whole exome sequencing identified a novel heterozygous deletion (c.3781_3785delGAGGC) in exon 33 of the <i>MYBPC3</i> in the proband. This heterozygous variant causes frameshift (p.Glu1261Thrfs*3), which predicted to form a truncated MYBPC3 protein. The proband's father also carries this variant in a heterozygous state while the proband's mother did not harbor this variant. Here, we report on a novel deletion in the <i>MYBPC3</i> gene associated with HCM. We also highlight the importance of whole exome sequencing for molecular diagnosis for the patients with familial HCM.</p>\",\"PeriodicalId\":55403,\"journal\":{\"name\":\"Balkan Journal of Medical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2022-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f0/fa/bjmg-25-071.PMC9985356.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Balkan Journal of Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2478/bjmg-2022-0002\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Balkan Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/bjmg-2022-0002","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

心肌病是一种主要影响心肌的异质性疾病,常导致进行性心力衰竭相关残疾或心血管性死亡。肥厚性心肌病(HCM)是一种主要由心肌肌节编码基因突变引起的心肌疾病。MYBPC3的种系突变导致肥厚性心肌病(HCM)。然而,大多数HCM相关的MYBPC3突变是截断突变。在MYBPC3突变的HCM患者中观察到极端的表型异质性。在这项研究中,我们调查了一位中国男性HCM患者。全外显子组测序在先显子MYBPC3的33外显子上发现了一个新的杂合缺失(c.3781_3785delGAGGC)。该杂合变异体引起移码(p.Glu1261Thrfs*3),预计形成一个截断的MYBPC3蛋白。先证者的父亲也以杂合状态携带该变体,而先证者的母亲则不携带该变体。在这里,我们报道了与HCM相关的MYBPC3基因的一个新的缺失。我们还强调了全外显子组测序对家族性HCM患者的分子诊断的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Novel <i>Loss-of-function</i> Mutation in <i>MYBPC3</i> Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.

A Novel <i>Loss-of-function</i> Mutation in <i>MYBPC3</i> Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.

A Novel <i>Loss-of-function</i> Mutation in <i>MYBPC3</i> Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.

A Novel Loss-of-function Mutation in MYBPC3 Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.

Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death. Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder mostly caused by the mutations in genes encoding cardiac sarcomere. Germ-line mutations in MYBPC3 causes hypertrophic cardiomyopathy (HCM). However, most of the HCM associated MYBPC3 mutations were truncating mutations. Extreme phenotypic heterogeneity was observed among HCM patients with MYBPC3 mutations. In this study, we investigated a Chinese man who presented with HCM. Whole exome sequencing identified a novel heterozygous deletion (c.3781_3785delGAGGC) in exon 33 of the MYBPC3 in the proband. This heterozygous variant causes frameshift (p.Glu1261Thrfs*3), which predicted to form a truncated MYBPC3 protein. The proband's father also carries this variant in a heterozygous state while the proband's mother did not harbor this variant. Here, we report on a novel deletion in the MYBPC3 gene associated with HCM. We also highlight the importance of whole exome sequencing for molecular diagnosis for the patients with familial HCM.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信