Strategies for present and future mental retardation diagnosis

Abstract

Mental retardation (MR) is a highly heterogeneous condition with a prevalence of 1–3% in the general population. The psychosocial burden on families with mentally handicapped children is extensive. In addition, the accompanying expenses with mental handicaps are considerable. In this review a comprehensive strategy to systematically identify the causative genetic defect in patients with mental retardation is proposed. This strategy is a combination of routinely used and recently developed approaches, such as direct DNA sequencing, single nucleotide polymorphism arrays and expression profiling, to establish a molecular diagnosis in MR patients. Finally, it will be described how these mutations can be studied in different model systems, which can eventually be used to elucidate the neurobiological basis of MR and to facilitate possible therapeutic intervention.

Keywords: :

• diagnosis
• gene identification
• genome-wide
• mental retardation
• model systems
• techniques