Noonan综合征合并先天性心脏病及房性心律失常一例报告及文献复习  

Noonan Syndrome with Congenital Heart Disease and Atrial Arrhythmia:A Case Report and Literature Review

作　　者：束文娟 黎璇[1] 丁粤粤[1] 陈烨[1] 王波[1] 严文华[1] 吕海涛[1] 孙凌[1] 黄洁[1] SHU Wen-juan;LI Xuan;DING Yue-yue;CHEN Ye;WANG Bo;YAN Wen-hua;LV Hai-tao;SUN Ling;HUANG Jie(Department of Cardiology,Children's Hospital of Soochow University,Suzhou,Jiangsu,215025,China)

机构地区：[1]苏州大学附属儿童医院心内科,江苏苏州215025

出　　处：《中国血液流变学杂志》2021年第1期23-26,共4页Chinese Journal of Hemorheology

基　　金：国家自然科学基金资助项目(31670853);姑苏卫生人才重点项目(GSWS2019015)。

摘　　要：目的报告1例RAF1基因突变致Noonan综合征(NS)的临床特征,增加对RAF1基因突变表型谱的认识。方法收集患儿的临床资料,包括病史特点、相关实验室检查和家族史等。采用外显子捕获的方法对患儿及其父母进行全外显子高通量测序,并进行生物信息学分析,通过Sanger测序对高通量测序结果进行验证。结果患儿女,9岁,发育落后,头发稀疏卷曲,前额宽大突出,鼻梁扁平,眼距宽,双侧眼裂向外下略倾斜,上睑下垂。彩色多普勒超声心动图显示房间隔缺损,室间隔与左室肥厚。心电图提示:房性早搏,房性心动过速,测序发现RAF1基因c.770C>T(p.S257L)杂合突变,其父母均未携带,为突变。Sanger法验证了上述测序结果。结论RAF1基因突变可出现NS表型,而房性心律失常可能是RAF1基因突变型NS的一个新的表型谱。Objective To summarize and review the clinical data of a case Noonan syndrome(NS)caused by mutation in the RAF1 gene so as to improve the knowledge in spectrum of phenotype.Methods Clinical data of a case with NS were summarized,including clinical manifestations,laboratory tests and family history.High-throughput sequencing of whole exons was performed on children and their parents by exon capture,and bioinformatics analysis was performed.High-throughput sequencing results were verified by Sanger sequencing.Results A 9-year-old girl,presented with short stature,thin and curly hair,tall forehead,broad nose,wide-spaced eyes,downward slant of palpebral fissures,ptosis.Color Doppler echocardiography showed atrial septal defect,ventricular septum and left ventricular hypertrophy.Electrocardiogram suggestion:atrial premature beats,atrial tachycardia,sequencing found that RAF1 gene c.770C>T(p.S257L)heterozygous mutations,which was not carried by her parents.The Sanger method validated the above high-throughput sequencing results.Conclusion The RAF1 gene mutation can lead to NS phenotype,and atrial arrhythmia may be a new phenotype of mutations in RAF1 gene.

关 键 词：NOONAN综合征 临床表型 RAF1基因 

分 类 号：R725.4[医药卫生—儿科]