2024 年第 1 期 第 19 卷

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1 王芳洁1 谢振华2 李东晓2

英文作者：Sun Qiqing1 Hou Weina1 Wang Fangjie1 Xie Zhenhua2 Li Dongxiao2

单位：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

英文单位：1Department of Cardiology Children′s Hospital Affiliated of Zhengzhou University Henan Children′s Hospital Zhengzhou Children′s Hospital Zhengzhou 450018 China; 2Henan 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

关键词：CACNA1C基因；基因突变；分子遗传学

英文关键词：CACNA1Cgene;Genemutation；Moleculargenetics

• 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 CACNA1C 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 CACNA1C 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.