HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg
| Autor: | Claus Hansen, Karen Friis-Henriksen, Klaus W. Kjaer, John M. Opitz, Merete Bugge, Jess Hedeboe, Maria Baeksted Vestergaard, Niels Tommerup |
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| Rok vydání: | 2002 |
| Předmět: |
Male
Genotype DNA Mutational Analysis Molecular Sequence Data Biology Gene duplication medicine Humans Genetics (clinical) Genetics Family Health Homeodomain Proteins Alanine Polymorphism Genetic Base Sequence Dysostosis DNA medicine.disease Synpolydactyly Pedigree Polydactyly HOXD13 Mutation (genetic algorithm) Female Syndactyly Dermatoglyphics Peptides Trinucleotide Repeat Expansion Transcription Factors |
| Zdroj: | American journal of medical genetics. 110(2) |
| ISSN: | 0148-7299 |
| Popis: | 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. © 2002 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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