Article
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
European journal of human genetics : EJHG - 1 Oct 2005
Charman Tony, Neilson Tracey C S, Mash Veronica, Archer Hayley, Gardiner Mary T, Knudsen Gun P S, McDonnell Aoibhinn, Perry Jacqueline, Whatley Sharon D, Bunyan David J, Ravn Kirstine, Mount Rebecca H, Hastings Richard P, Hulten Maj, Orstavik Karen Helene, Reilly Sheena, Cass Hilary, Clarke Angus, Kerr Alison M, Bailey Mark E S
Abstract excerpt
We aimed to improve the understanding of genotype-phenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions - separating typicality of presentation, outcome severity and age of onset - and by classifying MECP2 mutations strictly by predicted functional attributes. MECP2 mutation screening results were available on 190 patients with a clinical diagnosis of RS...
Topics
- Adolescent
- Adult
- Age of Onset
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- DNA Mutational Analysis
- DNA-Binding Proteins