口-面-指综合征一家系的基因诊断

中国麻风皮肤病杂志 ›› 2016, Vol. 32 ›› Issue (9): 520-522.

口-面-指综合征一家系的基因诊断

王建才¹，高莹¹，刘晓雁¹，胡瑾¹，瞿宇晋²

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

出版日期:2016-09-15 发布日期:2018-12-14
通讯作者: 王建才，E-mail: wangjiancai7772@163.com

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

WANG Jiancai¹，GAO Ying¹，LIU Xiaoyan¹，HU Jin¹，QU Yujin²

1.Department of dermatology,pediatric hospital affiliated to capitalinstitute of pediatrics, Beijing 100020,China； 2. Department of Medical Genetics,Capital Institute of Pediatrics,Beijing 100020,China

Online:2016-09-15 Published:2018-12-14
Contact: WANG Jiancai, E-mail: wangjiancai7772@163.com

摘要/Abstract

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），最终明确了患儿的诊断，同时也发现其母亲携带相同的突变位点。

关键词: 口-面-指综合征, OFD1基因, 基因诊断

Abstract: 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, one missense 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.

Key words: oral-facial-digital syndromes, OFD1 gene, genetic diagnosis

王建才, 高莹, 刘晓雁, 胡瑾, 瞿宇晋. 口-面-指综合征一家系的基因诊断[J]. 中国麻风皮肤病杂志, 2016, 32(9): 520-522.

WANG Jiancai, GAO Ying, LIU Xiaoyan, HU Jin, QU Yujin. Genetic diagnosis in a family with oral-facial-digital syndrome[J]. China Journal of Leprosy and Skin Diseases, 2016, 32(9): 520-522.