Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis

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• 作者：Daxu Li^a ; ^b ; ¹ ; Xiaoyun Du^a ; ¹ ; Rui Zhang^a ; ¹ ; Bo Shen^a ; Yanli Huang^a ; Robert K. Valenzuela^e ; Bin Wang^a ; Huaxiang Zhao^a ; Zunwei Liu^a ; Jianjun Li^c ; Zhao Xu^c ; Linghan Gao^d ; ^{linghangao@gmail.com} ; Jie Ma^a ; ^{majie.paper@gmail.com}
• 关键词：DSPP ; Dentinogenesis imperfecta ; Mutation ; Bioinformatic analysis
• 刊名：Genomics
• 出版年：2012
• 期刊代码：170_08887543
• 类别：bio
• 出版时间：April, 2012
• 卷：99
• 期：4
• 页码：220-226
• 文件大小：517 K

摘要

In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leucine residue (c.50C>T, p.P17L, g.50C>T). To assess the potential effects of this novel mutation, we utilized various bioinformatics analysis programs. The results indicate that the mutation likely affects protein cleavage/trafficking. We also analyzed previously reported mutations of DSPP. In summary, our finding supports that the genomic sequence that corresponds to the P17 residue of DSPP is a mutational hotspot and P17 may be critical for the function of DSPP.