Zhang Xu, Fan Yue, Zhang Ying, Xue Huadan, Chen Xiaowei
Department of Otolaryngology, Peking Union Medical College Hospital, Beijing, PR China.
Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1410-5. doi: 10.1016/j.ijporl.2013.05.013. Epub 2013 Jul 6.
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.
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.
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.
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.
分析中国特雷彻·柯林斯综合征（TCS）病例的临床特征、听力康复情况及相关家族基因突变情况。本研究旨在强调与中国家庭TCS临床评估相关的基因研究结果。
本研究分析了6例初步诊断患者及2例患者的家庭成员。分析内容包括病史、临床分析、听力测试和基因检测。对TCOF1、POLR1C和POLR1D基因进行测序，以确定导致TCS发病的致病突变。
2例TCS病例表现出高度的表型变异性。在TCOF1基因中鉴定出一种新的杂合突变（c.4420 C>T）。该突变在TCS患者中发现，但在其未受影响的家庭成员或200名无关对照受试者中均未发现。
新的TCOF1 c.4420 C>T突变可能是中国人患TCS的原因之一。我们认为，对下颌面骨发育不全患者进行基因研究可能有助于TCS的诊断，并为其家庭提供咨询。
