HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg
- 22 May 2002
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 110 (2) , 116-121
- https://doi.org/10.1002/ajmg.10397
Abstract
In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)—the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status.Keywords
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