Pierre Robin sequence related genes / 中国组织工程研究

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. Final y, 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 smal sample cases are commonly seen. But, further large sample test and case analysis, as wel as related animal models are needed to analyze the role of these genes in the pathogenesis of Pierre Robin sequence, as wel as consequently, we can analyze the etiology and pathogenesis of Pierre Robin sequence.