Li Hongbo, Zhang Xu, Li Zhenyue, Chen Jing, Lu Yu, Jia Jingjie, Yuan Huijun, Han Dongyi
Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Institute of Otolaryngology, Beijing, 223301, China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 May;26(10):459-62.
To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene.
The medical history was taken, and general physical examinations and otological examinations were conducted in this patient. Genomic DNA was extracted from this patient and his parents and complete TCOF1 gene coding exons were amplified by specific PCR primers. Direct sequencing was carried out to identify the mutations. The raw data was analyzed with GeneTool software and molecular biological website.
We detected a heterozygous c. 1639 delAG mutation in exon 11 of TCOF1, which resulted in a truncated protein lacking normal function. This mutation is a novel mutation and the second case identified in exon 11 of in TCS.
TCS patient reported in this study has unique clinical phenotype. TCOF1 gene mutation is the specific risk factor.
分析1例特雷彻·柯林斯综合征（TCS）患者的临床及遗传学特征，鉴定TCOF1基因的突变。
采集该患者病史，进行全身体格检查及耳科检查。提取该患者及其父母的基因组DNA，用特异性PCR引物扩增TCOF1基因完整编码外显子。采用直接测序法鉴定突变。利用GeneTool软件和分子生物学网站对原始数据进行分析。
我们在TCOF1基因第11外显子中检测到一个杂合的c.1639 delAG突变，该突变导致产生一种缺乏正常功能的截短蛋白。此突变是一个新的突变，是TCS患者中在第11外显子鉴定出的第二例。
本研究报道的TCS患者具有独特的临床表型。TCOF1基因突变是特定的危险因素。
