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Nat Rev Genet. 2001 Sep;2(9):669-80.

Monogenic causes of X-linked mental retardation.

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Institut Cochin de Génétique Moléculaire, CNRS/INSERM, CHU Cochin 75014 Paris, France.


Mutations in X-linked genes are likely to account for the observation that more males than females are affected by mental retardation. Causative mutations have recently been identified in both syndromic X-linked mental retardation (XLMR) and in the genetically heterogeneous 'nonspecific' forms of XLMR, for which cognitive impairment is the only defining clinical feature. Proteins that function in chromatin remodelling are affected in three important syndromic forms of XLMR. In nonspecific forms of the disorder, defects have been found in signal-transduction pathways that are believed to function during neuronal maturation. These findings provide important insights into the molecular and cellular defects that underlie mental retardation.

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