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Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.
Dai, Jiewen; Xu, Chen; Wang, Guomin; Liang, Yun; Wan, Teng; Zhang, Yong; Xu, Xiaofeng; Yu, Lebin; Che, Zonggang; Han, Qiqing; Wu, Dandan; Yang, Yusheng.
Affiliation
  • Dai J; Department of Oral and Cranio-Maxillofacial Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, Shanghai 200011, People's Republic of China. 179554314@qq.com.
J Genet ; 97(2): 411-417, 2018 Jun.
Article in En | MEDLINE | ID: mdl-29932061
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.
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Collection: 01-internacional Database: MEDLINE Main subject: Cleft Lip / Cleft Palate / Genetic Predisposition to Disease / T-Box Domain Proteins / Genetic Diseases, X-Linked / Mutation Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Genet Year: 2018 Document type: Article Country of publication: India
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Collection: 01-internacional Database: MEDLINE Main subject: Cleft Lip / Cleft Palate / Genetic Predisposition to Disease / T-Box Domain Proteins / Genetic Diseases, X-Linked / Mutation Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Genet Year: 2018 Document type: Article Country of publication: India