Genetic testing for autism: Recent advances and clinical implications

Expert Review of Molecular Diagnostics

Volumn 10, Issue 7, 2010, Pages 837-840

  Miller, David T ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

autism; chromosomal disorders; comparative genomic hybridization; DNA copy number variations; genetic testing; microarray analysis

Indexed keywords

AUTISM; BIOINFORMATICS; EDITORIAL; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; COPY NUMBER VARIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; HUMAN GENOME;

AUTISTIC DISORDER; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; HUMANS;

EID: 79952197224     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.10.82     Document Type: Editorial

References (48)

1. Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, United States, 2006. In: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries/CDC 56(1), 12-28 (2006).
2. Folstein SE, Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat. Rev. Genet. 2(12), 943-955 (2001). (Pubitemid 33691091)
3. Monaco AP, Bailey AJ. Autism. The search for susceptibility genes. Lancet 358(Suppl.), S3 (2001).
4. Weiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265), 802-808 (2009).
5. Anney R, Klei L, Pinto D et al. A genomewide scan for common alleles affecting risk for autism. Hum. Mol. Genet. DOI: 10.1093/hmg/ddq307 (2010) (Epub ahead of print).
6. Lintas C, Persico AM. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J. Med. Genet. 46(1), 1-8 (2009).
7. Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R. Genetics of autistic disorders: review and clinical implications. Eur. Child. Adolesc. Psychiatry 19(3), 169-178 (2010).
8. Sebat J, Lakshmi B, Malhotra D et al. Strong association of de novo copy number mutations with autism. Science 316(5823), 445-449 (2007). (Pubitemid 46651493)
9. Marshall CR, Noor A, Vincent JB et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82(2), 477-488 (2008).
10. Bucan M, Abrahams BS, Wang K et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 5(6), e1000536 (2009).
11. Glessner JT, Wang K, Cai G et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246), 569-573 (2009).
12. Pinto D, Pagnamenta AT, Klei L et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466(7304), 368-372 (2010).
13. Mefford HC, Sharp AJ, Baker C et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359(16), 1685-1699 (2008).
14. Dykens EM, Sutcliffe JS, Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. Ment. Retard. Dev. Disabil. Res. Rev. 10(4), 284-291 (2004). (Pubitemid 40209461)
15. Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol. Dis. 38(2), 181-191 (2010).
16. Miller DT, Shen Y, Weiss LA et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders. J. Med. Genet. 46(4), 242-248 (2009).
17. Ben-Shachar S, Lanpher B, German JR et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J. Med. Genet. 46(6), 382-388 (2009).
18. Weiss LA, Shen Y, Korn JM et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358(7), 667-675 (2008). (Pubitemid 351240746)
19. Kumar RA, KaraMohamed S, Sudi J et al. Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17(4), 628-638 (2008). (Pubitemid 351201774)
20. Rosenfeld JA, Coppinger J, Bejjani BA et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J. Neurodevelop. Disord. 2(1), 26-38 (2010).
21. Shinawi M, Liu P, Kang SH et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J. Med. Genet. 47(5), 332-341 (2010).
22. Manning MA, Cassidy SB, Clericuzio C et al. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114(2), 451-457 (2004). (Pubitemid 39006674)
23. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet. Med. 10(4), 301-305 (2008). (Pubitemid 351544133)
24. Shen Y, Dies KA, Holm IA et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 125(4), e727-e735 (2010).
25. Baldwin EL, Lee JY, Blake DM et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet. Med. 10(6), 415-429 (2008).
26. Hochstenbach R, van Binsbergen E, Engelen J et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur. J. Med. Genet. 52(4), 161-169 (2009).
27. Miller DT, Adam MP, Aradhya S et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86(5), 749-764 (2010).
28. Alarcon M, Abrahams BS, Stone JL et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82(1), 150-159 (2008). (Pubitemid 351726082)
29. Arking DE, Cutler DJ, Brune CW et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am. J. Hum. Genet. 82(1), 160-164 (2008). (Pubitemid 351726090)
30. Bakkaloglu B, O'Roak BJ, Louvi A et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet. 82(1), 165-173 (2008). (Pubitemid 351735952)
31. Kim HG, Kishikawa S, Higgins AW et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 82(1), 199-207 (2008). (Pubitemid 351735950)
32. Ching MS, Shen Y, Tan WH et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B(4), 937-947 (2010).
33. Morrow EM, Yoo SY, Flavell SW et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 321(5886), 218-223 (2008). (Pubitemid 351989087)
34. Durand CM, Betancur C, Boeckers TM et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet. 39(1), 25-27 (2007). (Pubitemid 46026497)
35. Moessner R, Marshall CR, Sutcliffe JS et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am. J. Hum. Genet. 81(6), 1289-1297 (2007). (Pubitemid 350211458)
36. Buxbaum JD, Cai G, Chaste P et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B(4), 484-491 (2007). (Pubitemid 46983159)
37. Sallows GO, Graupner TD. Intensive behavioral treatment for children with autism: four-year outcome and predictors. Am. J. Ment. Retard. 110(6), 417-438 (2005).
38. Howlin P, Magiati I, Charman T. Systematic review of early intensive behavioral interventions for children with autism. Am. J. Intellect. Dev. Disabil. 114(1), 23-41 (2009).
39. Magiati I, Charman T, Howlin P. A two-year prospective follow-up study of community-based early intensive behavioural intervention and specialist nursery provision for children with autism spectrum disorders. J. Child Psychol. Psychiatry 48(8), 803-812 (2007).
40. Altemeier WA, Altemeier LE. How can early, intensive training help a genetic disorder? Pediatr. Ann. 38(3), 167-170, 172 (2009).
41. Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42(1), 30-35 (2010).
42. Lupski JR, Reid JG, Gonzaga-Jauregui C et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362(13), 1181-1191 (2010).
43. Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet 375(9725), 1525-1535 (2010).
44. McClellan J, King MC. Genomic analysis of mental illness: a changing landscape. JAMA 303(24), 2523-2524 (2010).
45. Hoppman-Chaney N, Peterson LM, Klee EW, Middha S, Courteau LK, Ferber MJ. Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. Clin. Chem. 56(8), 1297-306 (2010).
46. Shaw AC, Hennekam RC. Interpreting humanity's genes. Eur. J. Med. Genet. 52(6), 379-1380 (2009).
47. Hudson K, Javitt G, Burke W, Byers P. ASHG Statement* on direct-to-consumer genetic testing in the United States. Obstet. Gynecol. 110(6), 1392-1395 (2007). (Pubitemid 351326086)
48. Lachance CR, Erby LA, Ford BM, Allen VC Jr, Kaphingst KA. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genet. Med. 12(5), 304-312 (2010).