G2Cdb::Allele report

Mutation type
SNP

Altered genes (1)

Gene Symbol Species Description
G00001434 RAF1 Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1

Diseases (1)

Disease Description Nervous effect
D00000177 Autism Y

Literature (1)

Pubmed - human_disease

  • SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.

    Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ, Maestrini E and International Molecular Genetic Study of Autism Consortium (IMGSAC)

    Department of Biology, University of Bologna, Bologna, Italy.

    Autism is a severe neurodevelopmental disorder with a complex genetic predisposition. Linkage findings from several genome scans suggest the presence of an autism susceptibility locus on chromosome 2q24-q33, making this region the focus of candidate gene and association studies. Recently, significant association with autism has been reported for single-nucleotide polymorphisms (SNPs) in the SLC25A12 and CMYA3 genes on chromosome 2q. We attempted to replicate these findings in the collection of families from the International Molecular Genetic Study of Autism Consortium (IMGSAC), using the transmission disequilibrium test and case-control comparison. Our study failed to reveal any significant association for the SNPs tested at either locus, suggesting that these variants are unlikely to play a major role in genetic susceptibility to autism in our sample.

    Funded by: Telethon: GGP030227; Wellcome Trust

    European journal of human genetics : EJHG 2006;14;1;123-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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