A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family

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• 作者：Binbin Wang^a ; ^b ; ¹ ; Baoqiang Xu^c ; ¹ ; Zhi Cheng^a ; ^b ; Xueya Zhou^d ; Jing Wang^a ; ^b ; Guang Yang^c ; Longfei Cheng^a ; ^b ; Jun Yang^c ; ^{proyangjun@163.com} ; Xu Ma^a ; ^b ; ^e ; ^{nicgr@263.net}
• 关键词：HOXD13 ; Synpolydactyly ; Mutation ; Homeodomain
• 刊名：Clinica Chimica Acta
• 出版年：2012
• 出版时间：11 July, 2012
• 年：2012
• 卷：413
• 期：13-14
• 页码：1049-1052
• 全文大小：446 K

文摘

Purpose

The 5?HoxD genes and their paralogs in the HoxD cluster are crucial for normal vertebrate limb development. Mutations in HOXD13 and HOXD13 have been found to cause human limb malformation. Here we describe a two-generation Chinese family with a variant form of mild synpolydactyly.

Methods

Sequence analysis of HOXD13 gene in a two-generation Chinese family with six individuals.

Results

Gene scan and linkage analysis suggested that HOXD13 might be responsible for the disease of this family. An LOD around 1.8 was observed at three markers (P = 2E^?#xA0;3). We identified a novel c.893G>A (p.Arg298Gln) mutation in the HOXD13 homeodomain. And the mutation affected the transcriptional activation ability of HOXD13.

Conclusion

This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development.