基因突变致Cantu综合征一例  

Cantu syndrome induced by gene mutation:a case report

作　　者：徐东 黄永建[1] Xu Dong;Huang Yongjian(Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,武汉430030

出　　处：《新医学》2022年第11期852-855,共4页Journal of New Medicine

摘　　要：Cantu综合征是由三磷酸腺苷依赖的钾离子通道功能异常引起的多毛性骨软骨发育不良综合征,可累及全身多个系统,主要表现为全身多毛、骨骼肌肉异常、心脏疾病等。该文报道1例10月龄的Cantu综合征男性患儿的临床资料及基因检测结果。患儿主要表现为特殊面容,有先天性心脏病史及呼吸道反复感染史。全外显子基因测序结果显示,患儿三磷酸腺苷结合盒亚家族C成员9(ABCC9)基因的9号外显子发生错义突变,c.1138G>A(p.Gly380Ser),为新发现的突变类型。该例提示基因检测有助于该病的早期诊断,并指导优生优育。Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel,involving multiple systems,mainly manifested as hyperhairy body,skeletal muscle abnormalities and heart disease,etc.In this article,clinical data and gene sequencing results of a 10-month-old boy with Cantu syndrome were reported.He mainly presented with special facial features,and with congenital heart disease and recurrent respiratory tract infections.The results of whole exon gene sequencing showed that the child had missense mutation in exon 9 of ABCC9 gene,c.1138G>A(p.Gly380Ser).This mutation has not been previously reported.Genetic testing is helpful to early diagnosis of Cantu syndrome and guide the eugenics.

关 键 词：Cantu综合征 骨软骨发育不良综合征 钾离子通道 ABCC9基因 

分 类 号：R725.9[医药卫生—儿科]