Journal
GENE
Volume 499, Issue 1, Pages 48-51Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2012.02.046
Keywords
Synpolydactyly; HOXD13; Polyalanine expansion mutation
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Funding
- National Natural Science Foundation of China [81072452]
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Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is an inherited autosomal-dominant limb malformation characterized by SD of finger 3 or 4 or toe 4 or 5, usually with digit duplication. Previous studies have demonstrated that homeobox protein D13 (HOXD13) is responsible for this Mendelian disorder. In this paper, we report on a family with SPD - 7 members show typical SPD malformations. We used PCR and Sanger sequencing of DNA from peripheral blood samples and found an 8-Ala expansion in exon 1 of HOXD13 by mutation detection; this variant was absent in unaffected members and in 50 unaffected non-related subjects. This study further confirmed the correlation between SPD and alanine expansion in HOXD13. (C) 2012 Elsevier B.V. All rights reserved.
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