Chinese Journal of Tissue Engineering Research ›› 2015, Vol. 19 ›› Issue (24): 3910-3915.doi: 10.3969/j.issn.2095-4344.2015.24.026

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Pierre Robin sequence related genes

Tang Chen-lu, Shen Wei-min   

  1. Department of Burn and Plastic Surgery, Nanjing Children’s Hospital Affiliated to Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
  • Online:2015-06-11 Published:2015-06-11
  • Contact: Shen Wei-min, Master, Chief physician, Master’s supervisor, Department of Burn and Plastic Surgery, Nanjing Children’s Hospital Affiliated to Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
  • About author:Tang Chen-lu, Studying for master’s degree, Department of Burn and Plastic Surgery, Nanjing Children’s Hospital Affiliated to Nanjing Medical University, Nanjing 210008, Jiangsu Province, China

Abstract:

BACKGROUND: Pierre Robin Sequence is a congenital malformation which is characterized by micrognathia, glossoptosis and respiratory tract obstruction with or without cleft palate. SOX9, KCNJ2, Ptprs and Ptprf are probably connected with Pierre Robin Sequence.
OBJECTIVE: To review the recent progress in the researches on the related genes about Pierre Robin Sequence.
METHODS: A computer-based online search of CNKI database and PubMed database was performed to retrieve the relevant articles published from January 1999 to September 2014 with the key words of “micrognathia, Pierre Robin Sequence, mutation, gene locus” in Chinese and English, respectively. Finally, 58 articles were included for review after deleting unrelated and repetitive ones.
RESULTS AND CONCLUSION: SOX9, KCNJ2, Ptprs and Ptprf are probably connected with Pierre Robin Sequence. Recently, the research on the genes connected with Pierre Robin Sequence focuses on 17q23-24, and small sample cases are commonly seen. But, further large sample test and case analysis, as well as related animal models are needed to analyze the role of these genes in the pathogenesis of Pierre Robin sequence, as well as consequently, we can analyze the etiology and pathogenesis of Pierre Robin sequence.

 

Key words: Micrognathism, Mutation, Genes, Genetic Loci

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