HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
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.
Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark. klaus@medgen.ku.dk
Klaus Wilbrandt
KW
Kjaer
Jess
J
Hedeboe
Merete
M
Bugge
Claus
C
Hansen
Karen
K
Friis-Henriksen
Maria Baeksted
MB
Vestergaard
Niels
N
Tommerup
John M
JM
Opitz
D000409:Alanine / Q000235:genetics; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010455:Peptides / Q000235:genetics; D017689:Polydactyly / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic; D013576:Syndactyly / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine; D004247:DNA; D000409:Alanine