同济大学学报（医学版）2023，Vol.44Issue(6)：813-816,4.DOI:10.12289/j.issn.1008-0392.23359
肥厚型心肌病家系中MYBPC3-D1149fs*40新发突变的基因型及临床表型研究
Genotype-phenotype correlation for a novel MYBPC3-D1149fs*40 mutation identified in familial hypertrophic cardiomyopathy
摘要
Abstract
Objective To analyze the genotype-phenotype correlation of a novel MYBPC-D1149fs*40 mutation identified in familial hypertrophic cardiomyopathy(HCM).Methods Genes associated with HCM were detected in the proband by exonic amplification and high throughput sequencing.Suspected mutations were verified by Sanger sequencing among family members of the proband,and genotype-phenotype correlation was co-isolated and analyzed.The conservation of the detected mutations across species were analyzed with ClustalX software,and the pathogenicity was predicted with SIFT,PolyPhen-2 and other software.Results Hypertrophic cardiomyopathy was diagnosed in 3 of the 7 family members.They had asymmetric hypertrophy of the interventricular septum with a average thickness of(16.1+1.2)mm and no left ventricular outflow tract obstruction was observed.Genetic testing showed that 3 of them carried a c.3445(exon 31)delG(p.Asp1149fs*40)mutation of the MYBPC gene,while the remaining 4 family members were phenotypically normal and did not carry the gene mutation.The mutation had not been recorded by the dbSNP,1 000 genomes and other databases.Conservation analysis showed that the mutation was highly conserved,and bioinformatics analysis forecasted that the mutation was pathogenic.Conclusion Family members carrying the p.D1149fs*40 mutation of the MYBPC3 gene are all HCM patients,and those without the mutation were phenotypically normal,which suggests that the p.D1149fs*40 mutation of the MYBPC3 gene may be the pathogenic mutation for familial hypertrophic cardiomyopathy.关键词
心肌病/肥厚性/MYBPC3/基因型/表型Key words
cardiomyopathy/hypertrophic/MYBPC3/genotype/phenotype分类
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陆晓晨,曹鑫南,许培曙,刘虎,顾漪,陈雨枫,盛红专..肥厚型心肌病家系中MYBPC3-D1149fs*40新发突变的基因型及临床表型研究[J].同济大学学报（医学版）,2023,44(6):813-816,4.基金项目
江苏省南通市科技局重点项目(MS22020008) （MS22020008）
