The genetic basis for mental retardation

摘要

The extent to which IQ is genetically determined has always been a controversial issue but the fact that it is, to some extent, genetically determined has been widely accepted. It seems probable that mutations in genes that are normally involved in determining IQ will underlie some forms of mental retardation, but gene expression in the CNS is so complex that one can also imagine mutations in the most prosaic genes, whose normal function has little to do with specific CNS function, seriously interfering with normal development. Identification of the underlying genetic defects in a large population of patients with MR may ultimately contribute to our understanding of normal CNS structure and function. More importantly, in the short term it will benefit the clinical management of the very large number of patients with currently undia-gnosed forms of MR.