Functional classification and mutation analysis of a synpolydactyly kindred

  • Authors:
    • Jianda Zhou
    • Yao Chen
    • Ke Cao
    • Yonghua Zou
    • Haiyan  Zhou
    • Feng Hu
    • Bin Ni
    • Yong Chen
  • View Affiliations

  • Published online on: September 11, 2014     https://doi.org/10.3892/etm.2014.1957
  • Pages: 1569-1574
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Abstract

The aim of the present study was to analyze a congenital syndactyly/polydactyly kindred and propose a new functional classification method of clinical significance. The modes of inheritance and mutational mechanisms were also determined using genetic analyses. Hand and foot anatomy and functions were measured using photographic images, X‑ray imaging and grip ability tests. Genetic analysis comprised the genotyping of polymorphic microsatellite markers at known polydactyly‑associated loci and the sequencing of the candidate gene. A functional classification system was devised to divide the clinical features into three types, which included mild, moderate or severe deformity. The family was concluded to have syndactyly type II with autosomal dominant inheritance. The microsatellites, D2S2310 and D2S2314, at the 2q31‑32 chromosome, which have previously been associated with synpolydactyly type I, were found to be associated with the disorder in the current family. A 27‑bp insertion mutation was identified in the affected individuals in the HOXD13 gene at this locus. The insertion added a further nine alanine residues to the polyalanine stretch within the encoded protein. In conclusion, the functional classification method described in the present study may be used to guide surgical approaches to treatment. A family was identified in whom expansion of the polyalanine tract in the HOXD13 gene causes autosomal dominant hereditary synpolydactyly.
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November-2014
Volume 8 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Zhou J, Chen Y, Cao K, Zou Y, Zhou H, Hu F, Ni B and Chen Y: Functional classification and mutation analysis of a synpolydactyly kindred. Exp Ther Med 8: 1569-1574, 2014
APA
Zhou, J., Chen, Y., Cao, K., Zou, Y., Zhou, H., Hu, F. ... Chen, Y. (2014). Functional classification and mutation analysis of a synpolydactyly kindred. Experimental and Therapeutic Medicine, 8, 1569-1574. https://doi.org/10.3892/etm.2014.1957
MLA
Zhou, J., Chen, Y., Cao, K., Zou, Y., Zhou, H., Hu, F., Ni, B., Chen, Y."Functional classification and mutation analysis of a synpolydactyly kindred". Experimental and Therapeutic Medicine 8.5 (2014): 1569-1574.
Chicago
Zhou, J., Chen, Y., Cao, K., Zou, Y., Zhou, H., Hu, F., Ni, B., Chen, Y."Functional classification and mutation analysis of a synpolydactyly kindred". Experimental and Therapeutic Medicine 8, no. 5 (2014): 1569-1574. https://doi.org/10.3892/etm.2014.1957