CACNA1C基因突变儿童2例的临床及分子遗传学研究  

Clinical and molecular genetics of two children with CACNA1C gene mutation

作　　者：孙琪青[1] 候维纳 王芳洁 谢振华 李东晓 Sun Qiqing;Hou Weina;Wang Fangjie;Xie Zhenhua;Li Dongxiao(Department of Cardiology,Children′s Hospital Affiliated of Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou 450018,China;Henan Key Laboratory of Pediatric Inherited&Metabolic Diseases,Children′s Hospital Affiliated of Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院心血管内科,郑州450018 [2]郑州大学附属儿童医院、河南省儿童医院郑州儿童医院、河南省儿童遗传代谢病研究重点实验室,郑州450018

出　　处：《中国医药》2024年第1期116-118,共3页China Medicine

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20210679)。

摘　　要：本研究选取1例5岁5个月男性患儿,因“间断抽搐1年余”就诊,心电图检查提示QT间期延长,合并房室传导阻滞,可疑长QT综合征;另1例2岁3个月女性患儿,因“无明显诱因的发作性惊恐、抽搐伴发热”就诊,查体:小下颌、双眼内斜,脑电图异常,合并肌张力减低、运动、语言运动发育迟滞;2例患儿均完善了基因检测,例1结果提示CACNA1C基因存在c.1204G>A(p.G402S)新发杂合变异,诊断Timothy综合征,给予普萘洛尔治疗,后自行停药后猝死;例2结果提示CACNA1C基因存在c.1841T>C(p.L614P)新发杂合变异,给予抗癫痫治疗,随访仍有运动与语言发育迟滞。以上2例患儿的特征性表现同一基因引起的不同临床表型,均为罕见疾病,临床诊疗中需多加注意。A 5-year and 5-month-old boy was hospitalized because of"intermittent convulsions for more than 1 year".Electrocardiogram examination showed that the QT interval was prolonged,accompanied by atrioventricular block,and he was suspected of suffering from long QT syndrome.Another 2-year and 3-month-old girl was hospitalized because of"paroxysmal panic,convulsion with fever without obvious inducement".Physical examination:mandibular,binocular syncline,abnormal electroencephalography,combined with decreased muscle tone,motor,language and motor development retardation.Genetic testing has been improved in both children.Case 1:the results showed that there was a new heterozygous variation of c.1204G>A(p.G402S)in the CACNA 1 C gene.Timothy syndrome was diagnosed,propranolol was given for treatment,and then died suddenly after self withdrawal.Case 2:the results showed that there was a new heterozygous variation of c.1841T>C(p.L614P)in CACNA 1 C gene.After antiepileptic treatment,there was still movement and language retardation in follow-up.The characteristic manifestations of the above two children with different clinical phenotypes caused by the same gene are rare diseases,and more attention should be paid in clinical diagnosis and treatment.

关 键 词：CACNA1C基因 基因突变 分子遗传学 

分 类 号：R596[医药卫生—内科学]