Review

Nature Reviews Genetics 6, 46-57 (January 2005) | doi:10.1038/nrg1501

Focus on: Repeat Instability

X-linked mental retardation

H.-Hilger Ropers1 & Ben C. J. Hamel2  About the authors

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Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of mental retardation has focused almost entirely on the X-chromosome. Here, we review the remarkable recent progress in this field, its promise for understanding neural function, learning and memory, and the implications of this research for health care.

Author affiliations

  1. Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.
  2. University Medical Centre Nijmegen, Department of Human Genetics, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.

Correspondence to: H.-Hilger Ropers1 Email: ropers@molgen.mpg.de

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