Analysis of reelin as a candidate gene for autism

Molecular Psychiatry

Volumn 8, Issue 10, 2003, Pages 885-892

  Bonora, E ^a   Beyer, K S ^b   Lamb, J A ^a   Parr, J R ^c   Klauck, S M ^b   Benner, A ^b   Paolucci, M ^a   Abbott, A ^a   Ragoussis, I ^a   Poustka, A ^b   Bailey, A J ^c   Monaco, A P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Autism; Brain development; Candidate genes; Mutation screening; Reelin

Indexed keywords

DNA; REELIN; REPETITIVE DNA;

ARTICLE; AUTISM; BRAIN DEVELOPMENT; CANDIDATE GENE; CHROMOSOME 7Q; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RELN GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSMISSION DISEQUILIBRIUM TEST; TRIPLET REPEAT;

AUTISTIC DISORDER; CELL ADHESION MOLECULES, NEURONAL; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SERINE ENDOPEPTIDASES;

EID: 10744220777     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001310     Document Type: Article

References (30)

1. Chakiabarti S, Fombonne E. Pervasive developmental disorders in preschool children. JAMA 2001; 285: 3093-3099.
2. Fombonne E. The epidemiology of autism: a review. Psychol Med 1999; 29: 769-786.
3. Folstein S, Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977; 18: 297-321.
4. Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M et al. A case-control family history study of autism. J Child Psychol Psychiatry 1994; 35: 877-900.
5. Bailey A. Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25: 63-77.
6. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH et al. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 1995; 57: 717-726.
7. Lamb JA, Parr JR, Bailey AJ, Monaco AP. Autism: in search of susceptibility genes. Neuromol Med 2002; 2: 11-28.
8. IMGSAC. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998; 7: 571-578.
9. IMGSAC. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 2001; 10: 973-982.
10. Rice DS, Curran T. Role of the reelin signaling pathway in central nervous system development. Annu Rev Neurosci 2001; 24: 1005-1039.
11. D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T. A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 1995; 374: 719-723.
12. Hadj-Sahraoui N, Frederic F, Delhaye-Bouchaud N, Mariani J. Gender effect on Purkinje cell loss in the cerebellum of the heterozygous reeler mouse. J Neurogenet 1996; 11; 45-58.
13. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26: 93-96.
14. Kemper TL, Bauman ML. The contribution of neuropathologic studies to the understanding of autism. Neurol Clin 1993; 11: 175-187.
15. Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M et al. A clinicopathological study of autism. Brain 1998; 121 (Part 5): 889-905.
16. Persico AM, D'Agruma L, Maiorano N, Totaro A, Militerni R, Bravaccio C et al. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mo J Psychiatry 2001; 6: 150-159.
17. Fatemi SH. The role of Reelin in pathology of autism, Molec Psychiatry 2002; 7: 919-920.
18. Quattrocchi CC, Wannenes F, Persico AM, Ciafre SA, D'Arcangelo G, Farace MG et al Reelin is a serine protease of the extracellular matrix. J Biol Chem 2001: 277; 303-309.
19. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
20. Lewontin RC. On measures of gametic disequilibrium. Genetics 1988; 120: 849-852.
21. Abecasis GR, Cookson WO. GOLD - graphical overview of linkage disequilibrium. Bioinformatics 2000; 16: 182-183.
22. Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview - Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Develop Disord 1994; 24: 659-685.
23. Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
24. Tueting P, Costa E, Dwivedi Y, Guidotti A, Impagnatiello F, Manev R et al. The phenotypic characteristics of heterozygous reeler mouse. Neuroreport 1999; 10: 1329-1334.
25. Fatemi SH, Stary JM, Halt AR, Realmuto GR. Dysregulation of Reelin and Bcl-2 proteins in autistic cerebellum. J Autism Dev Disord 2001; 31: 529-535.
26. Sparrow S, Balla D, Cicchetti D. Vineland Adaptive Behaviour Scales. Pines C: MN, 1984.
27. Lord C, Risi S, Lambrecht L, Cook Jr EH, Leventhal BL, DiLavore PC et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205-223.
28. Klauck SM, Munstermann E, Bieber-Martig B, Ruhl D, Lisch S, Schmotzer G et al. Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. Hum Genet 1997; 100: 224-229.
29. Bonora E, Bacchelli E, Levy ER, Blasi F, Mallow A, Monaco AP et al. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molec Psychiatry 2002; 7: 289-301.
30. Morris AP, Curnow RN, Whittaker JC. Randomization tests of disease-marker associations. Ann Hum Genet 1997; 61: 49-60.