Neurodevelopmental Genomics of Autism, Schizophrenia, and Related Disorders

作者: J.F. Cubells , D. Moreno-De-Luca

DOI: 10.1016/B978-0-12-397267-5.00027-3

关键词: Increasing riskSchizophrenia (object-oriented programming)Behavioral syndromeClinical psychologyGenomicsAutismPsychology

摘要: Autism and schizophrenia are diagnostic terms referring to behavioral syndromes reflecting poorly understood heterogeneous neuro-developmental etiologies. A fundamental thesis of the current chapter is that both diagnoses most usefully conceived as spectra rather than unitary entities. Although modern classification systems consider autism-spectrum disorders (ASD) schizophrenia-spectrum (SSD) differ categorically, reviews historical commonalities in constructs ASD SSD, well recent evidence indicating specific genomic variants increase risk for ASD, SSD several other long considered be separate The particularly highlights copy-number (CNVs) a newly appreciated class variant associating with discusses CNV increasing sets disorders. concludes reformulation how research on CNV-related might conducted, implications design future genetic-epidemiological studies

参考文章(116)
Robert J. Shprintzen, Michael L. Lewin, Rosalie B. Goldberg, Ravelo V. Argamaso, Dennison Young, Eugene J. Sidoti, Milton D. Berkman, A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. The Cleft palate journal. ,vol. 15, pp. 56- 62 ,(1978)
J M Kane, H Meltzer, G Honigfeld, J Singer, Clozapine in treatment-resistant schizophrenics. Psychopharmacology Bulletin. ,vol. 24, pp. 62- 67 ,(1988)
O. Søvik, J. Sagen, P. R. Njølstad, H. Nyland, K.-M. Myhr, Contributions to the MODY5 phenotype Journal of Inherited Metabolic Disease. ,vol. 25, pp. 597- 598 ,(2002) , 10.1023/A:1022051609386
Joseph Gogos, Miklos Santha, Zoltan Takacs, Kevin D Beck, Victoria Luine, Louis R Lucas, J Victor Nadler, Maria Karayiorgou, None, The gene encoding proline dehydrogenase modulates sensorimotor gating in mice Nature Genetics. ,vol. 21, pp. 434- 439 ,(1999) , 10.1038/7777
Jacob L McCauley, Chun Li, Lan Jiang, Lana M Olson, Genea Crockett, Kimberly Gainer, Susan E Folstein, Jonathan L Haines, James S Sutcliffe, Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates BMC Medical Genetics. ,vol. 6, pp. 1- 11 ,(2005) , 10.1186/1471-2350-6-1
Adriana Miele, Job Dekker, Mapping cis- and trans- chromatin interaction networks using chromosome conformation capture (3C). Methods of Molecular Biology. ,vol. 464, pp. 105- 121 ,(2009) , 10.1007/978-1-60327-461-6_7
Opal Ousley, Kimberly Rockers, Mary Lynn Dell, Karlene Coleman, Joseph F. Cubells, A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: Implications for clinical evaluation and treatment Current Psychiatry Reports. ,vol. 9, pp. 148- 158 ,(2007) , 10.1007/S11920-007-0085-8
Julie Gauthier, Nathalie Champagne, Ronald G Lafrenière, Lan Xiong, Dan Spiegelman, Edna Brustein, Mathieu Lapointe, Huashan Peng, Mélanie Côté, Anne Noreau, Fadi F Hamdan, Anjené M Addington, Judith L Rapoport, Lynn E DeLisi, Marie-Odile Krebs, Ridha Joober, Ferid Fathalli, Fayçal Mouaffak, Ali P Haghighi, Christian Néri, Marie-Pierre Dubé, Mark E Samuels, Claude Marineau, Eric A Stone, Philip Awadalla, Philip A Barker, Salvatore Carbonetto, Pierre Drapeau, Guy A Rouleau, S2D Team, None, De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 7863- 7868 ,(2010) , 10.1073/PNAS.0906232107