关键词: 扩张型心肌病； 全外显子测序； SRCAP基因； 儿童

Abstract: Objective To analyze the correlation between the genotype and clinical phenotype of the family with dilated cardiomyopathy caused by SRCAP gene mutation. Methods To retrospectively analyze the clinical data of a child with idiopathic dilated cardiomyopathy, use whole exome sequencing technology to find the pathogenic gene, and verify with Sanger sequencing, use I-TASSER software to predict whether the pathogenic gene affects protein structure and Features. Results The whole exome sequencing of a 16 -month male child with DCM found that SRCAP c. 452 - 453 del, pPhe 151 Cysfs* 71 gene mutations were found. The family verified that the mutations were new heterozygous mutations through Sanger sequencing technology, and the inheritance mode was autosomal dominant. Genetic. Cysteine at position 151 of SRCAP gene is highly conserved among different species. I-TASSER software predicts 3230 residues of wild-type protein and 220 residues of mutant protein. Hydrophilicity analysis wild-type hydrophilic Sum (5:3226) = -1449.44, mutant hydrophilic Sum (5:216) =-126.55. Conclusion SRCAPc. 452 - 453 del, pPhe 151 Cysfs* 71 gene mutation is a new site mutation, which leads to premature termination of peptide chain synthesis, protein structure truncation and significant changes in hydrophilicity and hydrophobicity. Combining genotype and clinical phenotype analysis, consider The SRCAPc. 452 - 453 del mutation at this site is a new pathogenic mutation of DCM. The clinical characteristics were recurrent respiratory tract infection, high myocardial enzyme spectrum, decreased myocardial contractility, hyperlactic disease, backward language development, no malignant arrhythmia.

Key words: dilated cardiomyopathy; whole exome sequencing; SRCAP gene; child