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Article

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing

  • Authors:
    • Hao Deng
    • Ting Tan
    • Quanyong He
    • Qiongfen Lin
    • Zhijian Yang
    • Anding Zhu
    • Liping Guan
    • Jingjing Xiao
    • Zhi Song
    • Yi Guo
  • View Affiliations / Copyright

    Affiliations: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China, Department of Burn and Plastic Surgery, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China, BGI‑Shenzhen, Shenzhen, Guangdong 518083, P.R. China, Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China
  • Pages: 473-477
    |
    Published online on: May 11, 2017
       https://doi.org/10.3892/mmr.2017.6576
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Abstract

Syndactyly is one of the most common hereditary limb malformations, and is characterized by the fusion of specific fingers and/or toes. Syndactyly type I‑c is associated with bilateral cutaneous or bony webbing of the third and fourth fingers and occasionally of the third to fifth fingers, with normal feet. The aim of the present study was to identify the genetic basis of syndactyly type I‑c in four generations of a Chinese Han family by exome sequencing. Exome sequencing was conducted in the proband of the family, followed by direct sequencing of other family members of the same ancestry, as well as 100 ethnically‑matched, unrelated normal controls. A missense mutation, c.917G>A (p.R306Q), was identified in the homeobox D13 gene (HOXD13). Sanger sequencing verified the presence of this mutation in all of the affected family members. By contrast, this mutation was absent in the unaffected family members and the 100 ethnically‑matched normal controls. The results suggest that the c.917G>A (p.R306Q) mutation in the HOXD13 gene, may be responsible for syndactyly type I‑c in this family. Exome sequencing may therefore be a powerful tool for identifying mutations associated with syndactyly, which is a disorder with high genetic and clinical heterogeneity. The results provide novel insights into the etiology and diagnosis of syndactyly, and may influence genetic counseling and the clinical management of the disease.
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Copy and paste a formatted citation
Spandidos Publications style
Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, Guan L, Xiao J, Song Z, Guo Y, Guo Y, et al: Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. Mol Med Rep 16: 473-477, 2017.
APA
Deng, H., Tan, T., He, Q., Lin, Q., Yang, Z., Zhu, A. ... Guo, Y. (2017). Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. Molecular Medicine Reports, 16, 473-477. https://doi.org/10.3892/mmr.2017.6576
MLA
Deng, H., Tan, T., He, Q., Lin, Q., Yang, Z., Zhu, A., Guan, L., Xiao, J., Song, Z., Guo, Y."Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing". Molecular Medicine Reports 16.1 (2017): 473-477.
Chicago
Deng, H., Tan, T., He, Q., Lin, Q., Yang, Z., Zhu, A., Guan, L., Xiao, J., Song, Z., Guo, Y."Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing". Molecular Medicine Reports 16, no. 1 (2017): 473-477. https://doi.org/10.3892/mmr.2017.6576
Copy and paste a formatted citation
x
Spandidos Publications style
Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, Guan L, Xiao J, Song Z, Guo Y, Guo Y, et al: Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. Mol Med Rep 16: 473-477, 2017.
APA
Deng, H., Tan, T., He, Q., Lin, Q., Yang, Z., Zhu, A. ... Guo, Y. (2017). Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. Molecular Medicine Reports, 16, 473-477. https://doi.org/10.3892/mmr.2017.6576
MLA
Deng, H., Tan, T., He, Q., Lin, Q., Yang, Z., Zhu, A., Guan, L., Xiao, J., Song, Z., Guo, Y."Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing". Molecular Medicine Reports 16.1 (2017): 473-477.
Chicago
Deng, H., Tan, T., He, Q., Lin, Q., Yang, Z., Zhu, A., Guan, L., Xiao, J., Song, Z., Guo, Y."Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing". Molecular Medicine Reports 16, no. 1 (2017): 473-477. https://doi.org/10.3892/mmr.2017.6576
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