Genetic causes of syndromic and non-syndromic autism

Developmental Medicine and Child Neurology

Volumn 52, Issue 2, 2010, Pages 130-138

  Caglayan, Ahmet O ^a  

^a KAYSERI EDUCATION AND RESEARCH HOSPITAL   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; NEUREXIN; NEUREXIN 1; NEUROLIGIN; NEUROLIGIN 3; NEUROLIGIN 4; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN SHANK3; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; AUTISM; CHROMOSOME 22Q13.3 DELETION SYNDROME; COHEN SYNDROME; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOWN SYNDROME; DUCHENNE MUSCULAR DYSTROPHY; FRAGILE X SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HAPPY PUPPET SYNDROME; HUMAN; JOUBERT SYNDROME; KARYOTYPE 47,XYY; KLINEFELTER SYNDROME; MACROCEPHALY; MOLECULAR MECHANICS; NEUROFIBROMATOSIS; NON SYNDROMIC AUTISM; PATHOGENESIS; PHENYLKETONURIA; PRADER WILLI SYNDROME; PREVALENCE; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; SANFILIPPO SYNDROME; SMITH LEMLI OPITZ SYNDROME; SMITH MAGENIS SYNDROME; SYNDROMIC AUTISM; TIMOTHY SYNDROME; TUBEROUS SCLEROSIS; TURNER SYNDROME; WILLIAMS BEUREN SYNDROME;

AUTISTIC DISORDER; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS;

EID: 75349088719     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2009.03523.x     Document Type: Review

References (87)

1. Diagnostic and Statistical Manual of Mental Disorders 1994, 4th edn, Washington DC, American Psychiatric Association
2. DiCicco-Bloom E, Lord C, Zwaigenbaum L. The developmental neurobiology of autism spectrum disorder. J Neurosci 2006, 26:6897-906.
3. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004, 113:472-86.
4. Persico AM, Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006, 29:349-58.
5. Piven J, Palmer P, Jacobi D, Childress D, Arndt S. Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry 1997, 154:185-90.
6. Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet A 2008, 146:2213-20.
7. Veenstra-Vanderweele J, Christian SL, Cook EH. Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 2004, 5:379-405.
8. Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med 2006, 8:549-56.
9. Hagerman PJ. The fragile X prevalence paradox. J Med Genet 2008, 45:498-9.
10. Brunberg JA, Jacquemont S, Hagerman RJ. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 2002, 23:1757-66.
11. Roberts JE, Weisenfeld LAH, Hatton DD, Heath M, Kaufmann WE. Social approach and autistic behavior in children with fragile X syndrome. J Autism Dev Disord 2007, 37:1748-60.
12. Koukoui SD, Chaudhuri A. Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Res Rev 2007, 53:27-38.
13. Hatton DD, Sideris J, Skinner M. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006, 140:1804-13.
14. Cohen D, Pichard N, Tordjman S. Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord 2005, 35:103-16.
15. Loesch DZ, Bui QM, Dissanayake C. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev 2007, 31:315-26.
16. Aziz M, Stathopulu E, Callias M. Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet 2003, 121B:119-27.
17. Farzin F, Perry H, Hessl D. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr 2006, 27:S137-44.
18. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-16.
19. Laurvick CL, de Klerk N, Bower C. Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006, 148:347-52.
20. Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr 1995, 84:971-6.
21. Reed ML, Leff SE. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet 1994, 6:163-7.
22. Dimitropoulos A, Schultz RT. Autistic like symptomatology in Prader-Willi syndrome: a review of recent findings. Curr Psychiatry Rep 2007, 9:159-64.
23. Veltman MW, Craig EE, Bolton PF. Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatr Genet 2005, 15:243-54.
24. Dykens EM. Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults. Am J Ment Retard 2004, 109:142-53.
25. Angelman H. 'Puppet' children: a report on three cases. Dev Med Child Neurol 1965, 7:681-8.
26. Williams CA, Lossie A, Driscoll D. Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet 2001, 101:59-64.
27. Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet 2004, 66:530-6.
28. Battaglia A. The inv dup (15) or idic (15) syndrome (tetrasomy 15q). Orphanet J Rare Dis 2008, 19:3.
29. Epstein CJ, Korenberg JR, Anneren G. Protocols to establish genotype-phenotype correlations in Down syndrome. Am J Hum Genet 1991, 49:207-35.
30. Capone GT, Grados MA, Kaufmann WE, Bernad-Ripoll S, Jewell A. Down syndrome and co-morbid autism spectrum disorder: characterization using the aberrant behavior checklist. Am J Med Genet 2001, 134:373-80.
31. Prasher VP, Clarke DJ. Case report: challenging behaviour in a young adult with Down's syndrome and autism. Br J Learn Disabil 1996, 24:167-9.
32. Madhumita G, Amita HS, Kiran D, Kaneez FM. Behavior in children with Down syndrome. Indian J Pediatr 2008, 75:685-9.
33. Molloy CA, Murray DS, Kinsman A. Differences in the clinical presentation of trisomy 21 with and without autism. J Intellect Disabil Res 2009, 53:143-51.
34. Parisi MA, Glass IA. Joubert syndrome. GeneReviews at GeneTests-GeneClinics: Medical Genetics Information Resource 2007, http://www.geneclinics.org, http://www.genetests.org, In, Seattle: University of Washington, or (accessed 9 October 2009)
35. Takahashi TN, Farmer JE, Deidrick KK, Hsu BS, Miles JH, Maria BL. Joubert syndrome is not a cause of classical autism. Am J Med Genet 2005, 132:347-51.
36. Friedman JM, Gutmann DH, MacCollin M, Riccardi VM. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis 1999, Baltimore, MD, Johns Hopkins University Press
37. Gillberg C, Forsell C. Childhood psychosis and neurofibromatosis - more than a coincidence? J Autism Dev Disord 1984, 14:1-8.
38. Kurotaki N, Imaizumi K, Harada N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002, 30:365-6.
39. Courchesne E, Carper R, Akshoomoff N. Evidence of brain overgrowth in the first year of life in autism. JAMA 2003, 290:337-44.
40. Dementieva YA, Vance DD, Donnelly SL. Accelerated head growth in early development of individuals with autism. Pediatr Neurol 2005, 32:102-8.
41. Miles JH, Hadden LL, Takahashi TN, Hillman RE. Head circumference is an independent clinical finding associated with autism. Am J Med Genet 2000, 95:339-50.
42. Redcay E, Courchesne E. When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry 2005, 58:1-9.
43. Joseph DB, Guiqing C, Gudrun N. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. BMC Med Genet 2007, 8:68.
44. Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER. Beckwith Weidemann syndrome: a behavioral phenotype-genotype study. Am J Med Genet B Neuropsychiatr Genet 2008, 147:1295-7.
45. Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A. Increasing knowledge of PTEN germline mutations: two additional patients with autism and macrocephaly. Am J Med Genet A 2007, 143:589-93.
46. Splawski I, Timothy KW, Sharpe LM. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004, 119:19-31.
47. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998, 13:624-8.
48. Iznitzer M. Autism and tuberous sclerosis. J Child Neurol 2004, 19:675-9.
49. Bolton PF, Griffiths PD. Association of tuberous sclerosis of temporal lobes with autism and atypical autism. Lancet 1997, 349:392-5.
50. Curatolo P, Porfirio MC, Manzi B, Seri S. Autism in tuberous sclerosis. Eur J Paediatr Neurol 2004, 8:327-32.
51. Powell CM, Gersen SL, Keagle MB. Sex chromosomes and sex chromosome abnormalities. The Principles of Clinical Cytogenetics 2005, In, editors, 2nd edn, Totowa, MJ, Humana Press
52. Gillberg C, Cederlund M, Lamberg K, Zeijlon L. Brief report: 'The Autism Epidemic' The registered prevalence of autism in a Swedish urban area. J Autism Dev Disord 2006, 36:429-35.
53. Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet 2003, 12:229-37.
54. Vlangos CN, Yim DK, Elsea SH. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab 2003, 79:134-41.
55. Dykens EM, Finucane BM, Gayley C. Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J Autism Dev Disord 1997, 27:203-11.
56. Yoshida A, Kazukiyo M, Shirai M. Chromosome abnormalities and male infertility. Assist Reprod Rev 1996, 6:93-9.
57. Tartaglia N, Davis S, Hench A. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A 2008, 146:1509-22.
58. Geerts M, Steyaert J, Fryns JP. The XYY syndrome: a follow-up study on 38 boys. Genet Couns 2003, 14:267-79.
59. Durand CM, Betancur C, Boeckers TM. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007, 39:25-7.
60. Kelley RI, Hennekam RCH, Scriver CR, Beaudet AL, Valle D, Sly WS. Smith-Lemli-Opitz syndrome. The Metabolic and Molecular Basis of Inherited Disease 2001, 6183-201. In, editors, 8th edn, New York, McGraw-Hill
61. Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 2001, 98:191-200.
62. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A 2006, 140:1511-8.
63. Tierney E, Bukelis I, Thompson RE. Abnormalities of cholesterol metabolism in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2006, 141:666-8.
64. Aneja A, Tierney E. Autism: the role of cholesterol in treatment. Int Rev Psychiatry 2008, 20:165-70.
65. Karpf J, Turk J, Howlin P. Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. Clin Genet 2004, 65:327-32.
66. Steiner CE, Guerreiro MM, Marques-de-Faria AP. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Arq Neuropsiquiatr 2003, 61:176-80.
67. Baieli S, Pavone L, Meli C, Fiumara A, Coleman M. Autism and phenylketonuria. J Autism Dev Disord 2003, 33:201-4.
68. Neufeld EF, Muenzer J, Scriver CR, Beaudet AL, Sly WS, Valle D. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease 2001, 3421-52. In, editors, New York, McGraw-Hill
69. Spiegel EK, Colman RF, Patterson D. Adenylosuccinate lyase deficiency. Mol Genet Metab 2006, 89:19-31.
70. Hendriksen JG, Vles JS. Neuropsychiatric disorders in males with Duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder. J Child Neurol 2008, 23:477-81.
71. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 2005, 20:790-5.
72. Zwaigenbaum L, Tarnopolsky M. Two children with muscular dystrophies ascertained due to referral for diagnosis of autism. J Autism Dev Disord 2003, 33:193-9.
73. Young HK, Barton BA, Waisbren S. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008, 23:155-62.
74. Correia C, Coutinho AM, Diogo L. Brief report: high frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. J Autism Dev Disord 2006, 36:1137-40.
75. Oliveira G, Diogo L, Grazina M. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol 2005, 47:185-9.
76. Weissman JR, Kelley RI, Bauman ML. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS ONE 2008, 3.
77. Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE. Genetics of autism: overview and new directions. J Autism Dev Disord 1998, 28:351-68.
78. Marshall CR, Noor A, Vincent JB. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82:477-88.
79. Lise MF, El-Husseini A. The neuroligin and neurexin families: from structure to function at the synapse. Cell Mol Life Sci 2006, 63:1833-49.
80. Lintas C, Persico AM. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet 2009, 46:1-8.
81. Jamain S, Quach H, Betancur C. Paris Autism Research International Sibpair Study. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003, 34:27-9.
82. Yan J, Noltner K, Feng J. Neurexin 1alpha structural variants associated with autism. Neurosci Lett 2008, 438:368-70.
83. Levinson JN, El-Husseini A. A crystal-clear interaction: relating neuroligin/neurexin complex structure to function at the synapse. Neuron 2007, 56:937-9.
84. Moessner R, Marshall CR, Sutcliffe JS. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007, 81:1289-97.
85. Butler MG, Dasouki MJ, Zhou XP. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005, 42:318-21.
86. Buxbaum JD, Cai G, Chaste P. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007, 144B:484-91.
87. Tan WH, Baris HN, Burrows PE. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007, 44:594-602.