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

Abstract

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.

• Authors: Xiang Zhou, Canbin Zheng, Bo He, Zhaowei Zhu, Ping Li, Xinhua He, Shuang Zhu, Chuan Yang, Zhenguo Lao, Qingtang Zhu, Xiaolin Liu
• Journal: Bone (Bone) Vol. 57 Issue 1 Pg. 237-41 (Nov 2013) ISSN: 1873-2763 [Electronic] United States
• PMID: 23948678 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013. Published by Elsevier Inc. All rights reserved.

Chemical References

• HOXD13 protein, human
• Homeodomain Proteins
• Transcription Factors

Topics

• Female
• Homeodomain Proteins (genetics)
• Humans
• Male
• Mutagenesis, Site-Directed
• Mutation
• Pedigree
• Syndactyly (genetics)
• Transcription Factors (genetics)