Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families

作者：Dai, Jiewen; Xu, Chen; Wang, Guomin; Liang, Yun; Wan, Teng; Zhang, Yong; Xu, Xiaofeng; Yu, Lebin; Che, Zonggang; Han, Qiqing; Wu, Dandan^*; Yang, Yusheng^*

来源：Journal of Genetics, 2018, 97(2): 411-417.

DOI：10.1007/s12041-018-0938-4

• cleft lip
• cleft palate
• chinese families
• nonsyndromic
• TBX22 gene

TBX22 is a gene which contribute to cleft lip/palate, and many mutation sites of TBX22 have been reported. However, the exact role of TBX22 mutation in Chinese nonsyndromic cleft lip/palate (NSCL/P) family was not clearly explored. In this study, we tried to investigate the profiles and effects of TBX22 mutation in Chinese NSCL/P family. Members of two Chinese NSCL/P families and 200 normal controls were enrolled in this study. Further, DNA sequence and bioinformatic analysis for TBX22 were performed. The results showed that a novel and essential splicing site mutation, IVS6-1G>C, was detected in a family with cleft palate. The bioinformatic analysis results showed that this mutation would lead to abnormal transcription or translation, followed by a loss of function of TBX22. In addition, a hemizygous missense mutation, c.874G >A (p.D292N), was first reported in another Chinese family, which may exhibit aggravated effects on the phenotypes of CL/P. Taking these findings together, this study provides a profile of TBX22 mutation in Chinese NSCL/P families, and further confirmed the important role of TBX22 in familial cases with X-linked cleft palate.

• 出版日期2018-6
• 单位上海交通大学