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Major progress has been carried out in the last two decades in the identification of genetic alterations associated with mental retardation and autism spectrum disorders. In many instances these defects concern genes coding for synaptic proteins or proteins involved in regulation of synaptic properties. Analyses of the underlying mechanisms using gain and loss of function approaches have revealed...
The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition. Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints...
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