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DSPP mutation in dentinogenesis imperfecta Shields type II

Nature Genetics volume 27, pages 151–152 (2001)Cite this article

Abstract

We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.

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Figure 1: Clinical evaluations.
Figure 2: Molecular analysis of gene DSPP.

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Acknowledgements

We thank members of the affected family for participation, and Y. Fan and X. Zhu for technical assistance. This research was supported by the National Natural Science Foundation of China, the China National Key Program on Basic Research and the China National High-Tech R & D Program.

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Author notes

  1. Xiaohai Zhang and Jun Zhao: These authors contributed equally to this work.

Authors and Affiliations

  1. National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China

    Xiaohai Zhang, Changchun Qiu, Guanyun Wu, Boqin Qiang, Wilson H.Y. Lo & Yan Shen

  2. Stomatological Hospital, Tianjin Medical University, Tianjin, China

    Jun Zhao, Changfu Li, Shan Gao & Ping Liu

  3. National Center of Human Genome Research (Beijing), Beijing, 100176, China

    Boqin Qiang & Yan Shen

Authors
  1. Xiaohai Zhang
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  2. Jun Zhao
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  5. Changchun Qiu
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  10. Yan Shen
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Correspondence to Yan Shen.

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Zhang, X., Zhao, J., Li, C. et al. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 27, 151–152 (2001). https://doi.org/10.1038/84765

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