Portal de Periódicos da CAPES

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

2002; Wiley; Volume: 110; Issue: 2 Linguagem: Inglês

10.1002/ajmg.10397

1096-8628

Klaus Kjaer, Jess Hedeboe, Merete Bugge, Claus Hansen, Karen Friis‐Henriksen, Maria Baeksted Vestergaard, Niels Tommerup, John M. Opitz,

Genomic variations and chromosomal abnormalities

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 HOXD13 segregating 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. © 2002 Wiley‐Liss, Inc.