Article
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.
Human molecular genetics - 1 Jun 2012
Brison Nathalie, Debeer Philippe, Fantini Sebastian, Oley Christine, Zappavigna Vincenzo, Luyten Frank P, Tylzanowski Przemko
Abstract excerpt
Synpolydactyly (SPD) is a distal limb anomaly characterized by incomplete digit separation and the presence of supernumerary digits in the syndactylous web. This phenotype has been associated with mutations in the homeodomain or polyalanine tract of the HOXD13 gene. We identified a novel mutation (G11A) in HOXD13 that is located outside the previously known domains and affects the intracellular half life of the...
Topics
- Animals
- Body Patterning
- COS Cells
- Chick Embryo
- Chlorocebus aethiops
- HEK293 Cells
- Homeodomain Proteins
- Humans
- Kruppel-Like Transcription Factors
- Mutation
- Nerve Tissue Proteins
- Phenotype
- Syndactyly
- Transcription Factors