Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

Journal of Medical Genetics

Volumn 44, Issue 6, 2007, Pages 373-380

  Sisodiya, Sanjay M ^a,b   Thompson, Pamela J ^b   Need, Anna ^c   Harris, Sarah E ^d   Weale, Michael E ^c   Wilkie, Susan E ^e   Michaelides, Michel ^e   Free, Samantha L ^b   Walley, Nicole ^c   Gumbs, Curtis ^c   Gerrelli, Dianne ^f   Ruddle, Piers ^f   Whalley, Lawrence J ^g   Starr, John M ^d   Hunt, David M ^e   Goldstein, David B ^c   Deary, Ian J ^d   Moore, Anthony T ^e  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c DUKE UNIVERSITY   (United States)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN; BRAIN SCINTISCANNING; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; CORRELATION COEFFICIENT; EYE; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ENHANCEMENT; HUMAN; INTELLIGENCE QUOTIENT; MALE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYLOGENY; PRIORITY JOURNAL; RETINA DYSTROPHY; RIMS1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ANIMALS; BRAIN; COGNITION; CONES (RETINA); EVOLUTION, MOLECULAR; EYE ABNORMALITIES; FAMILY; FEMALE; GENE EXPRESSION REGULATION; GENETIC ENHANCEMENT; GTP-BINDING PROTEINS; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; RNA, MESSENGER; RODS (RETINA);

MUS;

EID: 34250709009     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.047407     Document Type: Article

References (30)

1. Inlow JK, Restifo LL. Molecular and comparative genetics of mental retardation. Genetics 2004;166:835-81.
2. Deary IJ, Spinath F, Bates TC. Genetics of IQ. Eur J Hum Genet 2006;14:690-700.
3. National Research Council. The aging mind: opportunities in cognitive research. Washington, DC: National Academy Press, 2002.
4. Deary IJ. Intelligence, health and death: the new field of cognitive epidemiology. Psychol 2005;8:610-13.
5. Dorus S, Vallender EJ, Evans PD, Anderson JR, Gilbert SL, Mahowald M, Wyckoff GJ, Malcom CM, Lahn BT. Accelerated evolution of nervous system genes in the origin of Homo sapiens. Cell 2004;119:1027-40.
6. Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet 2001;28:214-16.
7. Thompson PJ, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM. Cognitive findings in humans with mutations in PAX6. Neurology 2004;62:1216-18.
8. Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Brain, ocular and dental phenotypes of Axenfeld-Rieger Syndrome caused by a novel homeobox mutation in PITX2: the value of characteristing dental phenotypes for diagnosis. Am J Med Genet 2006;41:184-91.
9. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. SOX2 anophthalmia syndrome. Am J Med Genet A 2005;135:1-7.
10. Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Mesial temporal abnormalities in patients with SOX2 haploinsufficiency. Epilepsia 2006;47:534-42.
11. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Heterozygous mutations of the OTX2 gene cause a syndrome of ocular malformations. Am J Hum Genet 2005;76:1008-22.
12. Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics 2003;81:304-14.
13. Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Br J Ophthalmol 2005;89:198-206.
14. Castillo PE, Schoch S, Schmitz F, Sudhof TC, Malenka RC. RIM1 alpha is required for presynaptic long-term potentiation. Nature 2002;415:327-30.
15. Schoch S, Castillo PE, Jo T, Mukherjee K, Geppert M, Wang Y, Schmitz F, Malenka RC, Sudhof TC. RIM1 alpha forms a protein scaffold for regulating neurotransmitter release at the active zone. Nature 2002;415:321-6.
16. Wang Y, Okamoto M, Schmitz F, Hofmann K, Sudhof TC. Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion. Nature 1997;388:593-8.
17. Powell CM, Schoch S, Monteggia L, Barrot M, Matos MF, Feldmann N, Sudhof TC, Nestler EJ. The presynaptic active zone protein RIM1 alpha is critical for normal learning and memory. Neuron 2004;42:143-53.
18. Deary IJ, Whiteman MC, Starr JM, Whalley LJ, Fox HC. The impact of childhood intelligence on later life: following up the Scottish mental surveys of 1932 and 1947. J Pers Soc Psychol 2004;86:130-47.
19. Spreen O, Strauss E. A compendium of neuropsychological tests: administration, norms and commentary. New York: Oxford University Press, 1998.
20. Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet 1998;63:274-9.
21. Keller JN. Age-related neuropathology, cognitive decline, and Alzheimer's disease. Ageing Res Rev 2006;5:1-13.
22. Rabinowitz D, Laird N. A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered 2000;50:211-23.
23. Lindenberger U, Scherer H, Baltes PB. The strong connection between sensory and cognitive performance in old age: not due to sensory acuity reductions operating during cognitive assessment. Psychol Aging 2001;16:196-205.
24. Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT. Microcephalin, a gene regulating brain size, continues to evolve adoptively in humans. Science 2005;309:1717-20.
25. Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, Lahn BT. Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 2005;309:1720-2.
26. Plomin R, Kovas Y. Generalist genes and learning disabilities. Psychol Bull 2005;131:592-617.
27. Sudhof TC. The synaptic vesicle cycle. Annu Rev Neurosci 2004;27:509-47.
28. Wang Y, Sugita S, Sudhof TC. The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins. J Biol Chem 2000;275:20033-44.
29. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-60.
30. Healy DG, Abou-Sleiman PM, Ahmadi KR, Muqit MM, Bhatia KP, Quinn NP, Lees AJ, Latchmann DS, Goldstein DB, Wood NW. The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism. Ann Neurol 2004;56:329-35.