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.
Kjaer
Klaus Wilbrandt
KW
Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark. klaus@medgen.ku.dk
Hedeboe
Jess
J
Bugge
Merete
M
Hansen
Claus
C
Friis-Henriksen
Karen
K
Vestergaard
Maria Baeksted
MB
Tommerup
Niels
N
Opitz
John M
JM
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