一例Treacher-Collins综合征患儿的TCOF1基因突变检测

Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome

目的探讨1例Treacher-Collins综合征患儿的临床特征和基因突变特点。方法收集患儿及其父母的临床资料，并对TCOF1基因所有的外显子进行检测，分析其基因型与临床表型的对应关系。结果患儿主要临床表现包括颧骨发育不全、眼裂向外倾斜、小下颌、外耳发育不全、小耳、腭裂等。基因检测提示患儿携带TCOF1基因第14外显子c．2261insG（p．E95X）插入突变，既往未见报道。患儿表型正常的父母TCOF1基因全外显子检测未发现突变。结论明确了1例颅面畸形患儿的致病原因，为其遗传咨询和生育指导提供了依据。

Objective To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome. Methods Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. All coding regions of the TCOF1 gene were subjected to PCR amplification and Sanger sequencing. Results A novel mutation c. 2261ins G （p. E95X） of the TCOF1 gene was discovered in the patient. The same mutation was not found in his parents and 100 healthy controls. Conclusion The c. 2261insG （p. E95X） mutation of the TCOF1 gene probably underlies the disease in the patient. Genetic testing can facilitate diagnosis and genetic counseling for families affected with TCS.