X-linked mental retardation
- 1 January 2005
- journal article
- review article
- Published by Springer Nature in Nature Reviews Genetics
- Vol. 6 (1) , 46-57
- https://doi.org/10.1038/nrg1501
Abstract
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.Keywords
This publication has 133 references indexed in Scilit:
- RNA and microRNAs in fragile X mental retardationNature Cell Biology, 2004
- Genesis of dendritic spines: insights from ultrastructural and imaging studiesNature Reviews Neuroscience, 2004
- Nonsyndromic X-linked mental retardation: where are the missing mutations?Trends in Genetics, 2003
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003
- Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndromeNature Genetics, 2002
- Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansNature Genetics, 2002
- Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)European Journal of Human Genetics, 2002
- Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationNature Genetics, 2000
- The Sequence Organization of Yp/Proximal Xq Homologous Regions of the Human Sex Chromosomes Is Highly ConservedGenomics, 1996
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991