Mutations in the TSGA14 gene in families with autism spectrum disorders

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 156, Issue 3, 2011, Pages 303-311

  Korvatska, O ^a   Estes, A ^a   Munson, J ^b   Dawson, G ^c,d   Bekris, L M ^a   Kohen, R ^b   Yu, C E ^a   Schellenberg, G D ^e   Raskind, W H ^a,b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c Autism Speaks Inc   (United States)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Autism spectrum disorders; Centrosome; Chromosome 7q; RNA splicing; TSGA14 gene

Indexed keywords

COPG2 PROTEIN; KLF14 PROTEIN; MEST PROTEIN; PROTEIN; TSGA14 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CENTROSOME; CHROMOSOME 7Q; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOMES, HUMAN, PAIR 7; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; RNA SPLICING;

EID: 79952577220     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31162     Document Type: Article

References (63)

1. Alarcon M, Cantor RM, Liu J, Gilliam TC, Geschwind DH. 2002. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70(1): 60-71.
2. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M. 2003. Proteomic characterization of the human centrosome by protein correlation profiling. Nature 426(6966): 570-574.
3. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, et al. 2008. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82(1): 160-164.
4. Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, et al. 1999. Genetic studies of autistic disorder and chromosome 7. Genomics 61(3): 227-236.
5. Association AP. 1994. Diagnostic and Statistical Manual of Mental Disorders. Arlington: American Psychiatric Association. pp. 65-78
6. Badner JA, Gershon ES. 2002. Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. Mol Psychiatry 7(1): 56-66.
7. Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S, Bruse SE, Tischfield S, Smith BJ, Zimmerman RA, et al. 2005. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. Am J Hum Genet 77(5): 851-868.
8. Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, et al. 2010. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 42(6): 489-491.
9. Brunak S, Engelbrecht J, Knudsen S. 1991. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220(1): 49-65.
10. Brune CW, Korvatska E, Allen-Brady K, Cook EH Jr., Dawson G, Devlin B, Estes A, Hennelly M, Hyman SL, McMahon WM, et al. 2007. Heterogeneous association between engrailed-2 and autism in the CPEA network. Am J Med Genet B Neuropsychiatr Genet. 147B(2): 187-193.
11. Cook EH Jr. 2001. Genetics of autism. Child Adolesc Psychiatr Clin N Am 10(2): 333-350.
12. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. 2009. Human Splicing Finder: An online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37(9): e67.
13. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. 2010. Rare variants create synthetic genome-wide associations. PLoS Biol 8(1): e1000294.
14. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, et al. 2007. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39(1): 25-27.
15. Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr., Skinner C, Schwartz CE, Sommer SS. 2006. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409(1): 10-13.
16. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. 2005. PMUT: A web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21(14): 3176-3178.
17. Fish JL, Kosodo Y, Enard W, Paabo S, Huttner WB. 2006. Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells. Proc Natl Acad Sci USA 103(27): 10438-10443.
18. Gache V, Waridel P, Winter C, Juhem A, Schroeder M, Shevchenko A, Popov AV. 2010. Xenopus meiotic microtubule-associated interactome. PLoS ONE 5(2): e9248.
19. Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, et al. 2008. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40(2): 232-236.
20. Hatten ME. 2002. New directions in neuronal migration. Science 297(5587): 1660-1663.
21. He H, Olesnanik K, Nagy R, Liyanarachchi S, Prasad ML, Stratakis CA, Kloos RT, de la Chapelle A. 2005. Allelic variation in gene expression in thyroid tissue. Thyroid 15(7): 660-667.
22. Higginbotham HR, Gleeson JG. 2007. The centrosome in neuronal development. Trends Neurosci 30(6): 276-283.
23. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM. 2007. 15q 11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet 16(6): 691-703.
24. Horsthemke B, Buiting K. 2008. Genomic imprinting and imprinting defects in humans. Adv Genet 61:225-246.
25. Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, Haines JL. 2003. Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet B Neuropsychiatr Genet 117(1): 90-96.
26. IMGSAC. 1998. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. Hum Mol Genet 7(3): 571-578.
27. IMGSAC. 2001. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 10(9): 973-982.
28. Jacob S, Brune CW, Carter CS, Leventhal BL, Lord C, Cook EH Jr. 2007. Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neurosci Lett 417(1): 6-9.
29. Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, et al. 2003. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34(1): 27-29.
30. Jonsson L, Ljunggren E, Bremer A, Pedersen C, Landen M, Thuresson K, Giacobini M, Melke J. 2010. Mutation screening of melatonin-related genes in patients with autism spectrum disorders. BMC Med Genomics 3:10.
31. Kelley LA, Sternberg MJ. 2009. Protein structure prediction on the Web: A case study using the Phyre server. Nat Protoc 4(3): 363-371.
32. Kerjan G, Gleeson JG. 2007. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet 23(12): 623-630.
33. Keverne EB, Curley JP. 2008. Epigenetics, brain evolution and behaviour. Front Neuroendocrinol 29(3): 398-412.
34. Kneller DG, Cohen FE, Langridge R. 1990. Improvements in protein secondary structure prediction by an enhanced neural network. J Mol Biol 214(1): 171-182.
35. Kryukov GV, Pennacchio LA, Sunyaev SR. 2007. Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies. Am J Hum Genet 80(4): 727-739.
36. Laird NM, Horvath S, Xu X. 2000. Implementing a unified approach to family-based tests of association. Genet Epidemiol 19 (Suppl 1): S36-S42.
37. Lake SL, Blacker D, Laird NM. 2000. Family-based tests of association in the presence of linkage. Am J Hum Genet 67(6): 1515-1525.
38. Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, et al. 2005. Analysis of IMGSAC autism susceptibility loci: Evidence for sex limited and parent of origin specific effects. J Med Genet 42(2): 132-137.
39. Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. 2008. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet 16(5): 614-618.
40. Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA. 1998. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet 20(2): 163-169.
41. Liu X, Kawamura Y, Shimada T, Otowa T, Koishi S, Sugiyama T, Nishida H, Hashimoto O, Nakagami R, Tochigi M, et al. 2010. Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. J Hum Genet 55(3): 137-141.
42. Lord C, Rutter M, Le Couteur A. 1994. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24(5): 659-685.
43. Lord C, Risi S, Lambrecht L, Cook EH Jr., Leventhal BL, DiLavore PC, Pickles A, Rutter M. 2000. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30(3): 205-223.
44. Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, et al. 2007. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 81(6): 1289-1297.
45. Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, et al. 2008. Identifying autism loci and genes by tracing recent shared ancestry. Science 321(5886): 218-223.
46. Noctor SC, Martinez-Cerdeno V, Ivic L, Kriegstein AR. 2004. Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases. Nat Neurosci 7(2): 136-144.
47. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, Rutter M. 1995. 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 57(3): 717-726.
48. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, et al. 2010. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466(7304): 368-372.
49. Piton A, Gauthier J, Hamdan FF, Lafreniere RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, et al. 2010. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry, in press.
50. Rabinowitz D, Laird N. 2000. A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered 50(4): 211-223.
51. Ramensky V, Bork P, Sunyaev S. 2002. Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30(17): 3894-3900.
52. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, et al. 2008. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319(5864): 816-819.
53. Reese MG, Eeckman FH, Kulp D, Haussler D. 1997. Improved splice site detection in Genie. J Comput Biol 4(3): 311-323.
54. Sathyan P, Golden HB, Miranda RC. 2007. Competing interactions between micro-RNAs determine neural progenitor survival and proliferation after ethanol exposure: Evidence from an ex vivo model of the fetal cerebral cortical neuroepithelium. J Neurosci 27(32): 8546-8557.
55. Schellenberg GD, Dawson G, Sung YJ, Estes A, Munson J, Rosenthal E, Rothstein J, Flodman P, Smith M, Coon H, et al. 2006. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 11(11): 1049-1060.
56. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3): 319-328.
57. Trikalinos TA, Karvouni A, Zintzaras E, Ylisaukko-oja T, Peltonen L, Jarvela I, Ioannidis JP. 2006. A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry 11(1): 29-36.
58. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, et al. 2009a. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459(7246): 528-533.
59. Wang X, Tsai JW, Imai JH, Lian WN, Vallee RB, Shi SH. 2009b. Asymmetric centrosome inheritance maintains neural progenitors in the neocortex. Nature 461(7266): 947-955.
60. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, et al. 2008. Association between microdeletion and microduplication at 16p11. 2 and autism. N Engl J Med 358(7): 667-675.
61. Weiss LA, Arking DE, Daly MJ, Chakravarti A. 2009. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265): 802-808.
62. Wu S, Jia M, Ruan Y, Liu J, Guo Y, Shuang M, Gong X, Zhang Y, Yang X, Zhang D. 2005. Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Biol Psychiatry 58(1): 74-77.
63. Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, et al. 2007. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci USA 104(31): 12831-12836.