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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Mental Retardation

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Disease relevance of Mental Retardation


Psychiatry related information on Mental Retardation


High impact information on Mental Retardation


Chemical compound and disease context of Mental Retardation


Biological context of Mental Retardation


Anatomical context of Mental Retardation


Gene context of Mental Retardation

  • We investigated an unusual family with epilepsy and mental retardation limited to females (EFMR, #121250 in ref. 9); this disorder is transmitted both by females and by completely unaffected carrier males [30].
  • Mutation screening of 119 patients with nonspecific mental retardation revealed a mutation in the first intron of ARHGEF6 (IVS1-11T-->C) in all affected males in a large Dutch family [31].
  • Mutations in GDI1 are responsible for X-linked non-specific mental retardation [32].
  • Rho GTPase pathways control actin reorganization, while the fragile X mental retardation protein (FMRP) regulates the synthesis of specific proteins [33].
  • Expansion of a (CGG)n trinucleotide repeat unit at FRAXE, a newly defined fragile site distal to FRAXA, at Xq28, is reported to be associated with mild mental retardation [34].
  • The genes GRIK4 and NPAS3, each associated with psychosis in patients with mental retardation are discussed to illustrate the value of rare cytogenetic events as a means to signpost neurobiological pathways of general importance for illness in the wider population [35].

Analytical, diagnostic and therapeutic context of Mental Retardation


  1. Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome. Musco, G., Stier, G., Joseph, C., Castiglione Morelli, M.A., Nilges, M., Gibson, T.J., Pastore, A. Cell (1996) [Pubmed]
  2. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Leppert, M., Baird, L., Anderson, K.L., Otterud, B., Lupski, J.R., Lewis, R.A. Nat. Genet. (1994) [Pubmed]
  3. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Sarkar, P.S., Appukuttan, B., Han, J., Ito, Y., Ai, C., Tsai, W., Chai, Y., Stout, J.T., Reddy, S. Nat. Genet. (2000) [Pubmed]
  4. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Vits, L., Van Camp, G., Coucke, P., Fransen, E., De Boulle, K., Reyniers, E., Korn, B., Poustka, A., Wilson, G., Schrander-Stumpel, C. Nat. Genet. (1994) [Pubmed]
  5. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M.B., Bonaldo, M.F., Hirvasniemi, A., de la Chapelle, A., Gilliam, T.C., Lehesjoki, A.E. Nat. Genet. (1999) [Pubmed]
  6. Methylated cytosine and the brain: a new base for neuroscience. Tucker, K.L. Neuron (2001) [Pubmed]
  7. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., Laudier, B., Chelly, J., Fryns, J.P., Ropers, H.H., Hamel, B.C., Andres, C., Barthélémy, C., Moraine, C., Briault, S. Am. J. Hum. Genet. (2004) [Pubmed]
  8. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Jacobsen, N.J., Lyons, I., Hoogendoorn, B., Burge, S., Kwok, P.Y., O'Donovan, M.C., Craddock, N., Owen, M.J. Hum. Mol. Genet. (1999) [Pubmed]
  9. FMR2 expression in families with FRAXE mental retardation. Gécz, J., Oostra, B.A., Hockey, A., Carbonell, P., Turner, G., Haan, E.A., Sutherland, G.R., Mulley, J.C. Hum. Mol. Genet. (1997) [Pubmed]
  10. SRPX2 mutations in disorders of language cortex and cognition. Roll, P., Rudolf, G., Pereira, S., Royer, B., Scheffer, I.E., Massacrier, A., Valenti, M.P., Roeckel-Trevisiol, N., Jamali, S., Beclin, C., Seegmuller, C., Metz-Lutz, M.N., Lemainque, A., Delepine, M., Caloustian, C., de Saint Martin, A., Bruneau, N., Depétris, D., Mattéi, M.G., Flori, E., Robaglia-Schlupp, A., Lévy, N., Neubauer, B.A., Ravid, R., Marescaux, C., Berkovic, S.F., Hirsch, E., Lathrop, M., Cau, P., Szepetowski, P. Hum. Mol. Genet. (2006) [Pubmed]
  11. 50 years of biological research--from oxidative phosphorylation to energy requiring transport regulation. Kalckar, H.M. Annu. Rev. Biochem. (1991) [Pubmed]
  12. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Zenker, M., Mayerle, J., Lerch, M.M., Tagariello, A., Zerres, K., Durie, P.R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., Beemer, F.A., Hamel, B., Vanlieferinghen, P., Gershoni-Baruch, R., Vieira, M.W., Dumic, M., Auslender, R., Gil-da-Silva-Lopes, V.L., Steinlicht, S., Rauh, M., Shalev, S.A., Thiel, C., Ekici, A.B., Winterpacht, A., Kwon, Y.T., Varshavsky, A., Reis, A. Nat. Genet. (2005) [Pubmed]
  13. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S., Matsubara, Y. Nat. Genet. (2005) [Pubmed]
  14. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Meloni, I., Muscettola, M., Raynaud, M., Longo, I., Bruttini, M., Moizard, M.P., Gomot, M., Chelly, J., des Portes, V., Fryns, J.P., Ropers, H.H., Magi, B., Bellan, C., Volpi, N., Yntema, H.G., Lewis, S.E., Schaffer, J.E., Renieri, A. Nat. Genet. (2002) [Pubmed]
  15. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. Levy, H.L., Waisbren, S.E. N. Engl. J. Med. (1983) [Pubmed]
  16. Letter: Possible importance of hyaluronic acid and dermatan sulfate ratios in mental retardation. Schneyer, C.A., Thompson, J.N. N. Engl. J. Med. (1975) [Pubmed]
  17. Acetaldehyde production and transfer by the perfused human placental cotyledon. Karl, P.I., Gordon, B.H., Lieber, C.S., Fisher, S.E. Science (1988) [Pubmed]
  18. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. Shefer, S., Salen, G., Batta, A.K., Honda, A., Tint, G.S., Irons, M., Elias, E.R., Chen, T.C., Holick, M.F. J. Clin. Invest. (1995) [Pubmed]
  19. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. Fitzky, B.U., Moebius, F.F., Asaoka, H., Waage-Baudet, H., Xu, L., Xu, G., Maeda, N., Kluckman, K., Hiller, S., Yu, H., Batta, A.K., Shefer, S., Chen, T., Salen, G., Sulik, K., Simoni, R.D., Ness, G.C., Glossmann, H., Patel, S.B., Tint, G.S. J. Clin. Invest. (2001) [Pubmed]
  20. Disruption of the mouse L1 gene leads to malformations of the nervous system. Dahme, M., Bartsch, U., Martini, R., Anliker, B., Schachner, M., Mantei, N. Nat. Genet. (1997) [Pubmed]
  21. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Knight, S.J., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E. Cell (1993) [Pubmed]
  22. Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues. Scott, J., Cowell, J., Robertson, M.E., Priestley, L.M., Wadey, R., Hopkins, B., Pritchard, J., Bell, G.I., Rall, L.B., Graham, C.F. Nature (1985) [Pubmed]
  23. Mutations in the cell adhesion molecule L1 cause mental retardation. Wong, E.V., Kenwrick, S., Willems, P., Lemmon, V. Trends Neurosci. (1995) [Pubmed]
  24. The putative Drosophila transcription factor woc is required to prevent telomeric fusions. Raffa, G.D., Cenci, G., Siriaco, G., Goldberg, M.L., Gatti, M. Mol. Cell (2005) [Pubmed]
  25. ASPM is a major determinant of cerebral cortical size. Bond, J., Roberts, E., Mochida, G.H., Hampshire, D.J., Scott, S., Askham, J.M., Springell, K., Mahadevan, M., Crow, Y.J., Markham, A.F., Walsh, C.A., Woods, C.G. Nat. Genet. (2002) [Pubmed]
  26. The BMP antagonist noggin regulates cranial suture fusion. Warren, S.M., Brunet, L.J., Harland, R.M., Economides, A.N., Longaker, M.T. Nature (2003) [Pubmed]
  27. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Hidalgo, A., Ma, S., Peired, A.J., Weiss, L.A., Cunningham-Rundles, C., Frenette, P.S. Blood (2003) [Pubmed]
  28. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Ranta, S., Lehesjoki, A.E., de Fatima Bonaldo, M., Knowles, J.A., Hirvasniemi, A., Ross, B., de Jong, P.J., Soares, M.B., de la Chapelle, A., Gilliam, T.C. Genome Res. (1997) [Pubmed]
  29. Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation. Takeshita, M., Matsuki, T., Tanishima, K., Yubisui, T., Yoneyama, Y., Kurata, K., Hara, N., Igarashi, T. J. Med. Genet. (1982) [Pubmed]
  30. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Ryan, S.G., Chance, P.F., Zou, C.H., Spinner, N.B., Golden, J.A., Smietana, S. Nat. Genet. (1997) [Pubmed]
  31. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Kutsche, K., Yntema, H., Brandt, A., Jantke, I., Nothwang, H.G., Orth, U., Boavida, M.G., David, D., Chelly, J., Fryns, J.P., Moraine, C., Ropers, H.H., Hamel, B.C., van Bokhoven, H., Gal, A. Nat. Genet. (2000) [Pubmed]
  32. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. D'Adamo, P., Menegon, A., Lo Nigro, C., Grasso, M., Gulisano, M., Tamanini, F., Bienvenu, T., Gedeon, A.K., Oostra, B., Wu, S.K., Tandon, A., Valtorta, F., Balch, W.E., Chelly, J., Toniolo, D. Nat. Genet. (1998) [Pubmed]
  33. CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.L., Giangrande, A. Neuron (2003) [Pubmed]
  34. FRAXE expansion is not a common etiological factor among developmentally delayed males. Allingham-Hawkins, D.J., Ray, P.N. Am. J. Hum. Genet. (1995) [Pubmed]
  35. Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia. Blackwood, D.H., Thiagarajah, T., Malloy, P., Pickard, B.S., Muir, W.J. Neurotox. Res (2008) [Pubmed]
  36. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Migeon, B.R., Luo, S., Stasiowski, B.A., Jani, M., Axelman, J., Van Dyke, D.L., Weiss, L., Jacobs, P.A., Yang-Feng, T.L., Wiley, J.E. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  37. Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation. Billuart, P., Vinet, M.C., des Portes, V., Llense, S., Richard, L., Moutard, M.L., Recan, D., Brüls, T., Bienvenu, T., Kahn, A., Beldjord, C., Chelly, J. Hum. Mol. Genet. (1996) [Pubmed]
  38. A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20. Vivarelli, R., Zuffardi, O., Maraschio, P., Anichini, C., Scarinci, R. Hum. Genet. (1988) [Pubmed]
  39. Angelman syndrome: how many genes to remain silent? Rougeulle, C., Lalande, M. Neurogenetics (1998) [Pubmed]
  40. Influence of epilepsy on mortality in mental retardation: an epidemiologic study. Forsgren, L., Edvinsson, S.O., Nyström, L., Blomquist, H.K. Epilepsia (1996) [Pubmed]
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