Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families

Journal of genetics

JIEWEN DAI^1¹  CHEN XU^2² 

[1] Department of Oral and Cranio-Maxillofacial Surgery, Shanghai Ninth People’sHospital, Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, Shanghai 200011, People’s Republic of China^1;Department of Oral and Maxillofacial Surgery, Central Hospital of ZiBo, Shandong, Zibo 255036, People’s Republic of China^2

关键词: cleft lip;    cleft palate;    chinese families;    nonsyndromic;    TBX22 gene;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

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 cleftpalate. 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.

【 授权许可】

CC BY