ArticleMolecular psychiatry2002
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.
Article in Molecular psychiatry, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Advances in autism research, 2021: continuing to decipher the secrets of autism.Molecular psychiatry · 2021Article
- Neuronal cell adhesion molecule (NrCAM) is expressed by sensory cells in the cochlea and is necessary for proper cochlear innervation and sensory domain patterning during development.Developmental dynamics : an official publication of the American Association of Anatomists · 2018Article
- Language Impairment Resulting from a de novo Deletion of 7q32.1q33.Molecular syndromology · 2016Article
- The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution.Frontiers in human neuroscience · 2016Article
- Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.EMBO molecular medicine · 2014Article
- High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.Molecular psychiatry · 2010Article
- Quantitative trait locus analysis identifies Gabra3 as a regulator of behavioral despair in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2010Article
- Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.PLoS genetics · 2007Article
- Molecular genetics of autism spectrum disorder.Molecular psychiatry · 2004Review
- Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.Molecular psychiatry · 2004Article
- Analysis of reelin as a candidate gene for autism.Molecular psychiatry · 2003Article
- The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.Journal of medical genetics · 2003Article
- The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.Human genetics · 2003Article
- Molecular genetics of autism spectrum disorders.Journal of human genetics · 2003Review
- Autism: in search of susceptibility genes.Neuromolecular medicine · 2002Review
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Authors and funding
8 authors.
Funding
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Abstract
Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5-a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.
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