Molecular analysis of the GABRB3 gene in Autistic patients: An exploratory study;Análisis molecular del gen GABRB3 en pacientes con autismo: Estudio exploratorio

Investigacion Clinica

Volumn 48, Issue 2, 2007, Pages 225-242

  Solís Añez, Ernesto ^a   Delgado Luengo, Wilmer Noé ^a   Borjas Fuentes, Lisbeth ^a   Zabala, William ^a   Arráiz, Nailet ^a   Pineda, Lennie ^a   Portillo, María Gabriela ^a   González Ferrer, Sandra ^a   Chacín, José Antonio ^a   Peńa, Joaquín ^a   Montiel, Cecilia ^a   Morales, Alisandra ^a   De Atencio, Alicia Rojas ^a   Cañizales, Jenny ^a   González, Richard ^a   Miranda, Luis Eduardo ^a   Abreu, Nivia ^a   Delgado, Juana ^a  

^a UNIVERSIDAD DEL ZULIA   (Venezuela)

Author keywords

Autism; GABRB3; Mutation; SNP

Indexed keywords

GAMMA AMINOBUTYRATE TRANSAMINASE RECEPTOR BETA 3 SUBUNIT; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CLINICAL ARTICLE; DNA FLANKING REGION; EXPLORATORY RESEARCH; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; IDIOPATHIC DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; MALE; PROSPECTIVE STUDIES; RECEPTORS, GABA-A; SEQUENCE ANALYSIS, DNA;

EID: 34547106309     PISSN: 05355133     EISSN: 05355133     Source Type: Journal    
DOI: None     Document Type: Article

References (50)

1. Bespalova I, Buxbaum JD. Disease susceptibility genes for autism. Ann Med 2003; 35:274-281
2. Lord C, Cook E, Leventhal B, Amaral D. Autism Spectrum Disorders. Neuron 2000; 28(2):355-363.
3. Villalobos A, Borregales L. Características epidemiológicas del autismo en la población infantil residente en el Municipio Maracaibo. Estudio Preliminar. (Resumen). Memorias del I Simposio Internacional de autismo en el Zulia: Construyendo redes de colaboración, 2005. Maracaibo, Venezuela, p 4.
4. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25:63-78.
5. Lamb J, Moore J, Bailey A, Monaco A. Autism: recent molecular genetic advances. Hum Mol Genet 2000; 9 (6):861-868.
6. Philippe A, Martínez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zapella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, and The Paris Reearch Sibpair Study. Genome wide-scan for autism. Hum Mol Genet 1999; 8:805-812.
7. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, Mullane JA, Nishimura DY, Palmer P, Piven J, Purdy J, Santangelo SL, Searby C, Sheffield V, Singleton J, Slager S(CLSA, Collaborative Linkage Study of Autism). An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet 1999; 88:609-615.
8. Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 1998; 62:1077-1083.
9. 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. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet 2000; 96:43-48.
10. Blatt GJ, Fitzgerald CM, Guptill JT, Booker AB, Kemper TL, Bauman ML. Density and distribution of hippocampal neurotransmitter receptors in autism: An autoradiographic study. J Autism Dev Disord 2001; 31(6):537-543.
11. Moreno-Fuenmayor H, Borjas L, Arrieta A, Valera V, Socorro-Candanoza L. Plasma excitatory amino acids in autism. Invest Clin 1996; 37(2):113-128.
12. Cohen B. Elevated levels of plasma and urine gamma-amino-butyric acid: a case study of an autistic child (letter). Autism 1999; 3:437-440.
13. Dhossche D, Applegate H, Abraham A, Maertens P, Bland L, Bencsath A, Martínez J. Elevated plasma gamma-amino-butyric acid (GABA) levels in autistic youngsters: stimulus for a GABA hypothesis of autism. Med Sci Monit 2002; 8(8):1-6.
14. Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 2005; 14(4):483-492.
15. Buhr A, Bianchi M, Baur R, Courtet P, Pignay V, Boulenger J, Gallati S, Hinkle DJ, Sigel ME. Functional characterization of the new human GABA-A receptor mutation β3(R192H). Hum Genet 2002; 111: 154-160.
16. Glatt K, Glatt H, Lalande M. Structure and organization of GABRB3 and GABRA5. Genomics 1997; 41:63-69.
17. Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH Jr, Fang Y, Song CY, Vitale R. Association between a GABRB3 polymorphism and autism. Mol Psychiatry 2002; 7:311-316.
18. Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Am J Med Genet 1999; 88:492-496.
19. Salmon B, Hallmayer J, Rogers T, Kalaydjieva L, Petersen PB, Nicholas P, Pingree C, McMahon W, Spiker D, Lotspeich L, Kraemer II, McCague P, Dimiceli S, Nouri N, Pitts T, Yang J, Hinds D, Myers RM, Risch N. Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism. Am J Med Genet 1999; 88:551-556
20. Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. Linkage disequilibrium at the Angelman syndrome gene LTBE3A in autism families. Genomics 2001; 77:105-113.
21. Rish N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater, Rogers T, Salmon B, Nicholas P, Brent PP, Pingree C, McMahon W, Wong D, Cavalli-Sforza LL, Kraemer II, Myers R. A Genomic screen of autism: evidence for a multilocus etiology. Am J Genet 1999; 65: 493-507.
22. International Molecular Genetic Study of Autism Consortium: A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Molec Genet 1998; 7:571-578
23. Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauster ER. Genetic studies in autistic disorder and chromosome 15. Neurogenetics 2000; 2:219-226.
24. Menold MM, Shao Y, Wolpert CM, Donnelly SL, Raiford KL, Martin ER, Ravan SA, Abramson RK, Wright HH, Delong GR, Cuccaro ML, Pericak-Vance MA, Gilbert JR. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet 2001; 15:245-259
25. Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM, Delong GR, Abramson RK, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder Ann Hum Genet 2006 May; 70(Pt 3):281-292.
26. Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, Ravan SA, Elston L, Decena K, Donnelly SL, Abramson RK, Wright HH, DeLong GR, Gilbert JR, Pericak-Vance MA. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 2003; 72:539-548.
27. Nurmi E, Down M, Tadevosyan-Leyfer MA, Haines J, Folstein S, Sutcliffe J. Exploratory Subsetting of Autism Families Based on Savant Skills Improves evidence og genetic Linkage to 15q11-q13. J Am Acad Child Adolesc Psychyatry 2003; 42 (7):856-863.
28. Ma DQ, Jaworski J, Menold MM, Donnelly S, Abramson RK, Wright HH, Delong GR, Gilbert JR, Pericak-Vance MA, Cuccaro ML. Ordered-subset analysis of savant skills in autism for 15q11-q13. Am J Med Genet B 2005; 135(1):38-41.
29. McCauley JL, Olson LM, Delahanty R, Amin T, Nurmi E, Organ EL, Jacobs M, Folstein SE, Haines JL, Sutcliffe J. A linkage Disequilibrium Map of the 1-Mb 15q12 GABA-A receptor subunit cluster and association to Autism. Am J Med Genet 2004; 131B:51-59.
30. Ausubel FM, Brent R, Kingston R, Moore DD, Seidman JG, Smith J, Struhl K. Preparation of genomic DNA. Phenol extraction and concentration of DNA from aqueous solutions. In: Short protocols in Molecular Biology. Current protocols in Molecular Biology. Ed. Reene Publishing associates and Wiley-Interscience. 1989. Vol I. pp.1.14.1-1.15.4.
31. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988; 16(3):1215.
32. Liechti-Gallati S, Schneider V, Neeser D, Kraemer R. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human disease. Eur J Hum Genet 1999; 7:590-598
33. Santos F, Peña SD, Epplen JT. Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Human Genet 1993; 90:655-656.
34. Sanger F, Nicklen S, Coulson AR. DNA sequencing with Chain-terminators inhibitors. Proc Natl Acad Sci. 1977; 74:5463-5467
35. National Center for Biotechnology Information (NCBI). Blast [online]. Available from: URL: http://www.ncbi.nlm.nih.gov/ genome/seq/.
36. Scriver CR, Nowacki P, Levaslaiho H. Guidelines and Recommendations for Content, Structure and Deployment of Mutation Databases. Hum Mutat 1999; 13:344-350.
37. The European Bioinformatics Institute and Genome Research Limited, and others. ENSEMBL [online]. Available from: URL: http://www.ensembl.org/ Homo_sapiens/
38. National Center for Biotechnology Information (NCBI). Single Nucleotide Polymorphism database (dbSNP) [online]. Available from: LTRL: http://www.ncbi.nlm. nih.gov/snp/
39. Thanaraj TA and Clark F. Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions. Nucleic Acids Res 2001; 29(12):2581-2593.
40. Faustino NA, Cooper T. Pre-mRNA splicing and human disease. Genes Dev 2003; 17:419-437.
41. Wan J, Carr JR, Baloh RW, Jen JC. Nonconsensus intronic mutations cause episodic ataxia. Ann Neurol 2005; 57(1): 131-135
42. Toomes C, Marchbank NJ, Mackey DA, Craig J, Newbury-Ecob R, Bennet Ch, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 2001; 10:1369-1378.
43. DeLorey T, Handforth A, Anagnostaras S, Homanics G, Minassian B, Asatourian A, Fanselow MS, Delgado-Escueta A, Ellison GD, Olsen RW. Mice lacking the β3 Subunit of the GABA-A receptor have the epilepsy phenotype and many behavioral characteristics of Angelman Syndrome. J Neurosci 1998; 18(20):8505-8514.
44. Liljelund P, Handfoth A, Homanics G, Olsen RW. GABA-A receptor β3 subunit gebe-deficient heterozygous mice show parent-of-origin gender-related differences in β3 subunit levels, EEG, and behavior. Develop Brain Res 2005; 157(2):150-161
45. Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland H, Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP; International Molecular Genetic Study of Austism Consortium (IMGSAC). Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet 2004; 13(2):198-207
46. Pritchard JK. Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet 2001; 69:124-137
47. Reich DE, Schaffner SF, Daly MJ, McVean G, Mullikin JC, Higgins JM, Richter DJ, Lander ES, Altshuler D. Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet 2002; 32:135-142.
48. Pickles A, Bolton P, Mcdonald H, Bailey A, Le Couteur A, Sim C. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history of autism. Am J Hum Genet 1995; 57:717-726
49. Chugani DC, Muzik O, Juhasz C, Janisse JJ, Ager J, Chugani HT. Postnatal maturation of human GABA-A receptors measured with positron emission tomography. Ann Neurol 2001; 49(5):618-626.
50. Aldred S, Moore KM, Fitzgerald M, Waring RH. Plasma amino acid levels in children with autism and their families. J Autism Dev Disord 2003; 33(1):93-97.