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

作者：Wang, Binbin; Xu, Baoqiang; Cheng, Zhi; Zhou, Xueya; Wang, Jing; Yang, Guang; Cheng, Longfei; Yang, Jun^*; Ma, Xu

来源：Clinica Chimica Acta, 2012, 413(13-14): 1049-1052.

DOI：10.1016/j.cca.2012.02.015

• HOXD13
• Synpolydactyly
• Mutation
• Homeodomain

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(-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.

• 出版日期2012-7-11
• 单位国家卫生计生委科学技术研究所; 中国医学科学院北京协和医院; 清华大学; 吉林大学