G2Cdb::Allele report

Mutation type

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 - other

  • Lack of association between autism and SLC25A12.

    Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR and Pericak-Vance MA

    Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St., Durham, NC 27710, USA.

    Objective: Autism has a strong, complex genetic component, most likely involving several genes. Multiple genomic screens have shown evidence suggesting linkage to chromosome 2q31-q33, which includes the SLC25A12 gene. Recently, an association between autism risk and two single nucleotide polymorphisms (SNPs) in SLC25A12 was reported. This study aimed to test for association in SLC25A12 in an independent data set of 327 families with autistic offspring.

    Method: The authors analyzed two SNPs that were significant in the previous study group, as well as seven additional SNPs within the gene. Association analyses for individual SNPs as well as haplotypes were performed.

    Results: There was no evidence of an association between SLC25A12 and autism.

    Conclusions: These results suggest that SLC25A12 is not a major contributor to autism risk in these families.

    Funded by: NCRR NIH HHS: RR-00095; NINDS NIH HHS: NS-26630, NS-36768

    The American journal of psychiatry 2006;163;5;929-31

© 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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