Clinical and molecular contributions to the understanding of X-linked mental retardation

Cytogenet Genome Res. 2002;99(1-4):265-75. doi: 10.1159/000071603.


X-linked mental retardation (XLMR) was first recognized in the 1940s, long before any human genes had been mapped. It is now estimated that XLMR has a prevalence of 2.6 cases per 1,000 population, accounting for over 10% of all cases of mental retardation. It is likely that over 150 genes are associated with XLMR. Fragile X syndrome, the most common form of XLMR, has a prevalence of about 1 in 4,000 males. Clinically, XLMR exists in syndromic (mental retardation with other somatic, neurological, behavioral, or metabolic findings) and nonsyndromic (mental retardation without other distinguishing features) forms. However, recent findings have caused this distinction to become blurred as mutations in some genes have been found in both syndromic and nonsyndromic XLMR. Progress in XLMR gene identification has allowed some insight into various pathways and cellular activities involved in developing cognitive functions. The genes involve signaling pathways, transcription factors, cytoskeletal organization, cell adhesion and migration, and maintenance of the cell membrane potential.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, X / genetics*
  • Cloning, Molecular
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Mental Retardation, X-Linked / genetics*
  • Mental Retardation, X-Linked / pathology
  • Mutation