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A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

Authors: Zhou, X  Zheng, C  He, B  Zhu, Z  Li, P  He, X  Zhu, S  Yang, C  Lao, Z  Zhu, Q  Liu, X 
Citation: Zhou X, etal., Bone. 2013 Nov;57(1):237-41. doi: 10.1016/j.bone.2013.07.039. Epub 2013 Aug 12.
Pubmed: (View Article at PubMed) PMID:23948678
DOI: Full-text: DOI:10.1016/j.bone.2013.07.039

INTRODUCTION: Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is caused by mutations in homeobox d13 (HOXD13). Here, we describe the study of a two-generation Chinese family with a variant form of synpolydactyly. MATERIALS AND METHODS: The sequence of the HOXD13 gene was analyzed. Luciferase assays were conducted to determine whether the mutation affected the function of the HOXD13 protein. RESULTS: We identified a novel c.659G>C (p.Gly220Ala) mutation outside the HOXD13 homeodomain responsible for the disease in this family. This mutation was not found in any of the unaffected family members and healthy control. Luciferase assays demonstrated that this mutation affected the transcriptional activation ability of HOXD13 (only approximately 84.7% of wild type, p<0.05). CONCLUSION: Phenotypes displayed by individuals carrying the novel mutation present additional features, such as the fifth finger clinodactyly, which is not always associated with canonical SPD. This finding enhances our understanding about the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development.

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CRRD Object Information
CRRD ID: 11098288
Created: 2016-06-08
Species: All species
Last Modified: 2016-06-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.