Genetics Overview
Autistic disorder Candidate Gene References
  1. Cook EH, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A, Haas R, Courchesne E, Leventhal BL (1997) Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 2:247-250.


  2. Folstein SE, Bisson E, Santangelo SL, Piven J (1998) Finding specific genes that cause autism: a combination of approaches will be needed to maximize power. J Autism Dev Disord 28(5):439-445.


  3. Folstein SE, Mankoski RE (2000) Chromosome 7q: where autism meets language disorder? Am J Hum Genet 67:278-281.


  4. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM (2000) Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology 62:393-405.


  5. Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP (2000) The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet 67: 357-368.


  6. Klauck SM, Poustka F, Benner A, Lesch KP, Poustka A (1997) Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet 6: 2233-2238.


  7. Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP (1999) Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSAC families. Am J Med Genet 88: 492-496.


  8. Martin ER, Menold MM, Wolpert CM, Bass MP, Donnelly SL, Ravan SA, Zimmerman A, Gilbert JR, Vance JM, Maddox LO, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA (2000) Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit in autistic disorder. Am J Med Genet 96: 43-48.


  9. Persico AM, D'Agruma L, Maiorano N, Totaro A, Militerni R, Bravaccio C, Wassink TH, Schneider C, Melmed R, Trillo S, Montecchi F, Palermo M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Conciatori M, Marino R, Quattrocchi CC, Baldi A, Zelante L, Gasparini P, Keller F (2001) Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 6: 150-159.


  10. Persico AM, Militerni R, Bravaccio C, Schneider C, Melmed R, Conciatori M, Damiani V, Baldi A, Keller F (2000) Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. Am J Med Genet 96:123-127.


  11. Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer S, Kroisel PM, Wagner K (2001) Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 68:848-858.


  12. Robinson PD, Schutz CK, Macciardi F, White BN, Holden JJA (2001) Genetically determined low maternal serum dopamine ß-hydroxylase levels and the etiology of autism spectrum disorders. Am J Med Genet 100: 30-36.


  13. Salmon B, Hallmayer J, Rogers T, Kalaydjieva L, Petersen PB, Nicholas P, Pingree C, McMahon W, Spiker D, Lotspeich L, Kraemer H, McCague P, Dimiceli S, Nouri N, Pitts T, Yang J, Hinds D, Myers RM, Risch N (1999) Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism. Am J Med Genet 88: 551-556.


  14. Tordjman S, Gutknecht L, Carlier M, Spitz E, Antoine C, Slama F, Carsalade V, Cohen DJ, Ferrari P, Roubertoux PL, Anderson GM (2001) Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry 6: 434-439.


  15. Veenstra-VanderWeele J, Gonen D, Leventhal BL, Cook EH (1999) Mutation screening of the UBE3A/E6-AP gene in autistic disorder. Mol Psychiatry 4: 64-67.


  16. Vicente AM, Coutinho A, Mota-Vieira L, Marques C, Olivera G (2000) Genetic variation of serotonin system genes in a sample of autistic families from Portugal. Am J Hum Genet Suppl 67: 303.


  17. Vincent JB, Herbrick JA, Gurling HMD, Bolton PF, Roberts W, Scherer SW (2000) Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 67: 510-514.


  18. Wassink TH, Piven J, Vieland V, Huang J, Swiderski R, Pietila J, Braun T, Beck G, Folstein SE, Haines J, Sheffield V (2001) Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet (Neuropsych Genet) 105: 406-413.


  19. Yirmiya N, Pilowsky T, Tidhar S, Nemanov L, Altmark L, Ebstein RP (2002) Family-based and population study of a functional promoter-region monoamine oxidase A polymorphism in autism: possible association with IQ. Am J Med Genet 114: 284-287.


  20. Yirmiya N, Pilowsky T, Nemanov L, Arbelle S, Feinsilver T, Fried I, Ebstein RP (2001) Evidence for an association with the serotonin transporter promoter region polymorphism and autism. Am J Med Genet 105: 381-386.


  21. Zhang H, Zhang C, Robitaille S, Grayson DR, Guidotti AR, Macciardi F, Leggo J, Holden JJA (2000) The RELN gene as a candidate locus for autism spectrum disorders. Am J Hum Genet Suppl 67: 359.


  22. Zhong N, Ye L, Ju W, Brown WT, Tsiouris J, Cohen I (1999) 5-HTTLPR variants not associated with autistic spectrum disorders. Neurogenetics 2: 129-131.

 

 

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WHAT IS A GENE?
Genes are very small structures inside almost every cell of the body. They are the instructions, or blueprints, that tell our body how to grow and develop, build necessary proteins, and thus determine an individual's characteristics, such as eye color and blood type. More ...

HOW GENES ARE NAMED
You may wonder how genes are named. As you may have guessed, some names are abbreviations for the full gene names. Other genes are named after similar genes in other organisms. More ...

WHAT IS A CHROMOSOME?
Chromosomes are structures that contain genes. Chromosomes are visible with a microscope and are located in the nucleus of a cell. Almost every human chromosome contains thousands of individuals genes. More ...

HOW CHROMOSOME ABNORMALITIES HELP US FIND GENES
Genetic researchers use many different tools and strategies to look at the genetic material (DNA) inside our cells to find the exact gene(s) that cause a genetic disorder such as autism. More ...

HOW GENOME SCREENS HELP US FIND GENES
In order to determine the genes that may be involved, scientists also perform what are referred to as "genome screens." To do this they use maps of the chromosomes in order to look for genes. More ...

 
   

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