摘要
家族性扩张型心肌病常见的遗传方式是常染色体显性遗传。本研究对1例先证者及其部分家系成员进行致病基因检测,发现先证者及其家系成员中的2位姐姐均携带LMNA基因c.656A>C(p.Lys219Thr)错义突变,分析其可能与家族性扩张型心肌病发病和心律失常相关。
The common genetic mode of familial dilated cardiomyopathy(FDCM)is autosomal dominant inheritance.This study detected the pathogenic genes of a proband and some family members.It was found that the proband and his two sisters carried the missense mutation of LMNA gene c.656 A>C(p.Lys219 Thr),which may be related to the pathogenesis of FDCM and arrhythmia.
作者
张亚辉
王可心
任燕龙
王月丽
高海
刘旭霞
张晓萍
李小燕
Zhang Yahui;Wang Kexin;Ren Yanlong;Wang Yueli;Gao Hai;Liu Xuxia;Zhang Xiaoping;Li Xiaoyan(Department of Acute Coronary Syndrome Ward,Center for Coronary Artery Disease,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Intensive Care Unit,Department of Cardiology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;First Department of Echocardiography,Beijing Anzhen Hospital,Capital Medical University y Beijing 100029,China;Beijing Anzhen Hospital,Capital Medical University,Beijing Institute of Heart Lung and Blood Vessel Diseases,Key Laboratory of Remodeling-Related Cardiovascular Disease of the Ministry of Education,Beijing 100029,China)
出处
《中国医药》
2022年第5期754-756,共3页
China Medicine
基金
北京市自然科学基金(7162032)。
