【摘要】 目的为家族性肥厚型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1例肥厚型心肌病患者及其家族成员的临床资料,然后对确诊为肥厚型心肌病的先证者的外周血样本进行基因二代测序及分析,筛选出三个候选致病基因:LAMA2、TTN和OBSCN,最后对家系中12例成员进行候选致病基因的Sanger测序验证及遗传传递分析。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 OBSCN基因可能是这个家系的家族性肥厚型心肌病的致病基因。更多还原

【Abstract】 Objective To provide a new candidate pathogenic gene for familial hypertrophic cardiomyopathy in genetic etiology,which needs further study. Methods The clinical data of a patient with hypertrophic cardiomyopathy who admitted to our hospital in August2018 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.更多还原