新生儿Cantú综合征1例  

One cases of neonatal Cantú syndrome

作　　者：王海政 张爱梅[2] WANG Haizheng;Zhang Aimei(Department of Pediatrics Teaching and Research,Weifang Medical University,Weifang,Shandong 261053,China;Departmeng of Neonatology,Weifang People’s Hospital,Weifang,Shandong 261000,China)

机构地区：[1]潍坊医学院儿科学教研室,山东潍坊261053 [2]潍坊市人民医院新生儿科,山东潍坊261000

出　　处：《中国优生与遗传杂志》2022年第7期1245-1248,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 分析由ABCC9基因变异引起Cantú综合征的临床特点及遗传学特征。方法 回顾分析1例Cantú综合征患儿的临床资料及基因检测结果。结果 患儿全身多毛,心脏彩超示先天性心脏病合并肺动脉高压,全外显子组测序显示ABCC9基因外显子12区域发现一处杂合突变c.3347G>A,患儿父母均未携带该变异,为新发变异。结论 基因检测有助于Cantú综合征的早期诊断,在父母未检测出相关变异的情况下生育常染色体显性病患儿,提示其父母一方可能为该突变的生殖腺嵌合体。Objective To analyze the clinical features and genetic characteristics of Cantú syndrome caused by the ABCC9 gene variant. Methods Retrospective analysis of the clinical data and genetic test results of a child with Cantúsyndrome. Results The infant was born with a hairy body and a cardiac ultrasound showing congenital heart disease combined with pulmonary hypertension, whole-exome sequencing of the preexisting patient revealed a heterozygous mutation c.3347G>A in the exon 12 region of the ABCC9 gene, which was not carried by the child’s parents and was a new mutation.Conclusion Genetic testing is useful for the early diagnosis of Cantú syndrome, and the birth of a child with autosomal dominant disease without a parent detecting the relevant mutation suggests that one parent may be a germline chimerism of the mutation.

关 键 词：Cantú综合征 婴儿 新生 ABCC9基因 生殖腺嵌合 

分 类 号：R722.1[医药卫生—儿科]