期刊
CLINICA CHIMICA ACTA
卷 413, 期 13-14, 页码 1049-1052出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.cca.2012.02.015
关键词
HOXD13; Synpolydactyly; Mutation; Homeodomain
资金
- National Basic Research Program of China [2010CB529504]
- National Science & Technology Pillar Program of China [2008BAH24B05]
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. Conclusion: This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development (C) 2012 Published by Elsevier B.V.
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