Identification of causal mutations in patients with unexplained mental retardation and congenital abnormalities by high throughput sequencing of selected candidate genes

Chromosomal aberrations as well as pointmutations are an important cause of mental retardation and multipele congenital abnormalities (MR/MCA). In this project, the newest technologies in human genetics (selective resequencing) will be used to resequence 3000 candidate genes for MR/MCA in order to understand the underlying cause of MR/MCA and to gain insights in normal human embryogenesis.