口-面-指综合征一家系的基因诊断  

Genetic diagnosis in a family with oral-facial-digital syndrome

作　　者：王建才[1] 高莹[1] 刘晓雁[1] 胡瑾[1] 瞿宇晋[2] 

机构地区：[1]首都儿科研究所附属儿童医院皮肤科,北京100020 [2]首都儿科研究所遗传实验室,北京100020

出　　处：《中国麻风皮肤病杂志》2016年第9期520-522,共3页China Journal of Leprosy and Skin Diseases

基　　金：首都儿科研究所青年科研基金(编号:青年-14-09)

摘　　要：口-面-指(趾)综合征(oral-facial-digital syndromes,OFDS)是一种主要表现为面部畸形、口腔异常及骨骼畸形的先天性综合征,临床中极为少见,早期诊断比较困难。我们对临床所见的一例可疑患儿进行了全外显子测序,在其OFD1基因上发现了1个错义突变(c.2524 G>A),最终明确患儿的诊断,同时也发现其母亲携带相同的突变位点。Oral-facial-digital syndrome is a congenital syndrome,which is mainly manifested in the facial deformity,abnormal oral cavity and skeletal deformity.It is very rare,and difficult to be diagnosed.Through the whole exon sequencing,onemissense mutation（c.2524 G〉A） was identified,so we finally confirmed the diagnosis of the child who was suspected as OFD,and also found her mother carried the same mutation.

关 键 词：口-面-指综合征 OFD1基因 基因诊断 

分 类 号：R725.9[医药卫生—儿科]