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HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

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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.
TidsskriftAmerican Journal of Medical Genetics. Part C: Seminars in Medical Genetics
Udgave nummer2
Sider (fra-til)116-121
Antal sider6
StatusUdgivet - 2002

ID: 141478