A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome

作者：Zhang, Xu; Fan, Yue; Zhang, Ying; Xue, Huadan; Chen, Xiaowei^*

来源：International Journal of Pediatric Otorhinolaryngology, 2013, 77(9): 1410-1415.

DOI：10.1016/j.ijporl.2013.05.013

• Treacher Collins syndrome
• Mandibulofacial dysostosis
• TCOF1
• Conductive hearing loss
• Genetic

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.

• 出版日期2013-9
• 单位中国医学科学院北京协和医院