Article
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
European journal of human genetics : EJHG - 1 Dec 2010
Cacciagli Pierre, Haddad Marie-Reine, Mignon-Ravix Cécile, El-Waly Bilal, Moncla Anne, Missirian Chantal, Chabrol Brigitte, Villard Laurent
Abstract excerpt
Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation in a patient with severe mental retardation and major hypotonia. We found that the balanced translocation is...
Topics
- Adenosine Triphosphatases
- Animals
- Child, Preschool
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 13
- Female
- Gene Expression Profiling
- Genetic Testing
- Humans
- Infant
- Infant, Newborn
- Mice
- Mutation