A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome
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在两例中国特雷彻柯林斯综合征病例中发现 TCOF1 基因的新突变
DOI：
10.1016/j.ijporl.2013.05.013
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发表时间：
2013-09-01
影响因子：
1.5
通讯作者：
Chen, Xiaowei
中科院分区：
文献类型：
--
作者：
Zhang, Xu;Fan, Yue;Chen, Xiaowei
目的：分析中国特雷彻·柯林斯综合征（TCS）病例的临床特征、听力康复和家族相关基因突变。本研究的目的是强调中国家庭中TCS临床评估的相关遗传学研究结果。方法：对6例初步诊断的TCS患者和2例患者的家庭成员进行分析。分析包括病史、临床分析、听力测试和基因测试。结果：2例TCS患者的TCOF1、POLR1C和POLR1D基因均存在高度的表型变异。在TCOF1基因中发现了一个新的杂合突变（c.4420 C > T）。在TCS患者中发现了突变，但在任何未受影响的家庭成员或200名无关的对照subject.Conclusions：一个新的TCOF1 c.4420 C > T突变可能是导致中国TCS。我们认为，对下颌骨面骨发育不全患者进行遗传学评估，有助于TCS的诊断，并为患者家属提供咨询。(C)2013爱思唯尔爱尔兰有限公司版权所有。
Objective: To analyze the clinical features, hearing rehabilitation and family related gene mutations in the Chinese cases of Treacher Collins syndrome (TCS). The purpose of this study is to emphasize the genetic research result correlating with the clinical assessment of TCS in Chinese families.Methods: Six patients with tentative diagnosis and family members of two patients were analyzed in this study. The analysis included medical histories, clinical analysis, hearing tests and genetic tests. The TCOF1, POLR1C and POLR1D genes were sequenced to identify the pathogenic mutation responsible for the development of TCS.Results: The two TCS cases exhibited high phenotypic variability. One novel heterozygous mutation (c.4420 C > T) in the TCOF1 gene was identified. The mutations were found in the TCS patients but not in any of their unaffected family members or the 200 unrelated control subjects.Conclusions: A novel TCOF1 c.4420 C > T mutation can be a cause of TCS in Chinese. We think that genetic studies to assess patients with mandibulofacial dysostosis may assist in making TCS diagnosis and providing consultant for their families. (C) 2013 Elsevier Ireland Ltd. All rights reserved.