MYH7,TTN and GLA mutation in familial hypertrophic cardiomyopathy
Abstract：Objective To study the relationship between genotype and phenotype of familial hypertrophic cardiomyopathy (HCM) by analyzing its pathogenic gene mutation site.Methods The exon and boarding introns in HCM-related genes were amplified by target exon trapping sequencing and tested in HCM patients and 200 volunteers by Sanger sequencing to identify the pathogenic mutations.Clinical manifestations,physical examinations,electrocardiography,echocardiography,cardiac MRI data were recorded.Results A missense mutation c.2389G＞A (A797L) was identified in 4 MYH7 gene carriers,a nonsense mutation c.G10306T (E3436X) was identified in 4 TTN gene carriers,a missense mutation c.196 G＞C was identified in 3 GLA gene cariers,which was located in No.2 exon of the GLA gene and resulted in glutamic acid (Glu) to glutamine (Gln) at amino acid residue 66.The onset time of HCM was earlier,the clinical manifestations were severer,the inerventricular septum was thicker and the left atrium was larger in MYH7,TTN and GLA gene carriers.Conclusion Mutation of MYH7 gene c.2389G＞A is a pathogenic mutation of HCM.The onset time of HCM is earlier and the phenotype is severer in patients carrying heterozygous mutations.
Keywords：cardiomyopathyhypertrophicfamilialmutationgenotypeglutamic acidglutamineventricular septum
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 1256-1259 )