Treacher Collins综合征患者临床表型特征及TCOF1基因突变分析

李洪波; 张旭; 李征玥; 程静; 卢宇; 贾靖杰; 袁慧军; 韩东一

doi:10.13201/j.issn.1001-1781.2012.10.011

Treacher Collins综合征患者临床表型特征及TCOF1基因突变分析

- 1 解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉科研究所(北京, 100853);
- 2 中国医学科学院北京协和医学院北京协和医院耳鼻咽喉科
基金项目:
国家自然科学基金重点项目(No:81030017)

详细信息

通讯作者: 袁慧军,E-mail:yuanhj715@gmail.com

中图分类号: R764.43

收稿日期: 2011-12-21

Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene

- 1 Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Institute of Otolaryngology, Beijing, 223301, China;
- 2 Department of Otolaryngology, Peking Union Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College

More Information

Corresponding author: YUAN Huijun, E-mail: yuanhj715@gmail.com

Received Date: 21 December 2011

摘要

摘要: 目的:对收集到的一个Treacher Collins综合征(TCS)患者的临床表型特征进行分析,并选取TCOF1基因进行突变检测分析。方法:收集患者病史,进行详细的全身和专科检查。患者签署知情同意书并抽取外周静脉血,聚合酶链反应扩增TCOF1基因编码区的全部外显子,在ABI自动测序仪上进行正反向测序,利用GeneTool软件及分子生物学网站的信息分析数据,对耳聋患者进行TCOF1基因突变分析。结果:TCS患者可检测到TCOF1基因第11外显子c.1639delAG杂合突变,该突变使TCOF1基因发生移码突变,在547位氨基酸提前产生了终止密码子(p.S547X),突变产生的Treacle截短蛋白丧失了功能活性。该突变是TCS病例中第2个位于TCOF1第11外显子的突变,国内外尚未见报道。结论:本文报道的TCS患者具有独特的临床表型特征,TCOF1基因突变是其明确的致病因素。
- Treacher collins综合征 /
- 聋,遗传性 /
- TCOF1基因 /
- 基因突变
Abstract: Objective: To analyze the clinical and genetic features of a patient with Treacher Collins syndrome(TCS), and identify the mutation in TCOF1 gene.Method: 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.Result: 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.Conclusion: TCS patient reported in this study has unique clinical phenotype. TCOF1 gene mutation is the specific risk factor.
- Treacher Collins syndrome /
- hearing loss,hereditary /
- TCOF1 gene /
- mutation

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参考文献(5)

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