[1]谭莹 易龙 谢峻 徐标 陆剑嵘.一个家族肥厚心肌病的遗传学分析[J].心血管病学进展,2020,(8):880-886.[doi:10.16806/j.cnki.issn.1004-3934.2020.08.023]
　TAN Ying,YI Long,XIE Jun,et al.Genetic Analysis of A Familial Hypertrophic Cardiomyopathy[J].Advances in Cardiovascular Diseases,2020,(8):880-886.[doi:10.16806/j.cnki.issn.1004-3934.2020.08.023]
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一个家族肥厚心肌病的遗传学分析()
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《心血管病学进展》[ISSN:51-1187/R/CN:1004-3934]

卷:
期数:
2020年8期
页码:
880-886
栏目:
论著
出版日期:
2020-08-25

文章信息/Info

Title:
Genetic Analysis of A Familial Hypertrophic Cardiomyopathy
作者:
谭莹1; 2 易龙2 谢峻1; 2 徐标1; 2 陆剑嵘
(1.南京大学医学院附属鼓楼医院心血管内科,江苏 南京210008;2.南京大学医学院,江苏 南京210046)
Author(s):
TAN Ying1; 2; YI Long2; XIE Jun1; 2; XU Biao1; 2; LU Jianrong1
(Department of Cardiology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,Jiangsu,China; 2.Medical School of Nanjing University,Nanjing 2100462,Jiangsu,China)
关键词:
肥厚心肌病; 二代测序; 生物信息学分析; OBSCN基因; 基因突变
Keywords:
Hypertrophic cardiomyopathy;  generation sequencing;  Bioinformatics analysis;  OBSCN gene;  Gene mutation
DOI:
10.16806/j.cnki.issn.1004-3934.2020.08.023
摘要:
目的 为家族肥厚心肌病的遗传病因学提供一个新的、需进一步研究的候选致病基因。 方法 收集2018年8月就诊于本院的例肥厚心肌病患者其家族成员的临床资料。然后对确诊为肥厚心肌病的先证者的外周血样本进行基因二代测序分析，筛选出三个候选致病基因：LAMA2、TTNOBSCN。最后对家系中成员进行候选致病基因的Sanger测序验证遗传传递分析。结果 OBSCN 基因编码的第6 721位苯丙氨酸突变为亮氨酸的杂合突变可能是该家族潜在致病病因，该突变位点可能损害该基因的功能。结论 可能是这个家系的家族肥厚心肌病的致病基因。
Abstract:
Objective To provide a new candidate pathogenic gene for familial hypertrophic cardiomyopathy in genetic etiologywhich needs further study. Methods The clinical data of a patient with hypertrophic cardiomyopathy who admitted to our hospital in August 2018 and her family members was collected. Then the next-generation sequencing and analysis were performed on peripheral blood sample of the proband diagnosed with hypertrophic cardiomyopathy,screening three candidate pathogenic genes:LAMA2,TTN and OBSCN. The twelve members of the pedigree received the Sanger sequencing confirmation of the candidate pathogenic genes and genetic transmission analysis lastly. Results Heterozygous mutation from phenylalanine to leucine at position 6 721 encoded by the OBSCN gene may be a potential cause of disease in the family, and the mutation site may impair the function of gene. Conclusion OBSCN gene may be a pathogenic gene for familial hypertrophic cardiomyopathy in this pedigree.

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备注/Memo

备注/Memo:
基金项目：江苏省医学重点学科项目（ZDXKB2016013）
通讯作者：姓名：陆剑嵘，E-mail：Lujianrong76@126.com
收稿日期：2020-03-19
更新日期/Last Update: 2020-11-02