G2Cdb::Human Disease report

Disease id
D00000159
Name
Mental retardation
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001468 RAB3A
RAB3A, member RAS oncogene family
Y (16584842) Single nucleotide polymorphism (SNP) N

References

  • Variants in the RAB3A gene are not associated with mental retardation in the Chinese population.

    Sun Y, Zhang F, Gao J, Gao X, Guo T, Shi Y, Tang W, Li S, Zheng Z, Zheng Y, Li X, Feng G and He L

    Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, Shanghai 200031, China.

    Mental retardation is a common form of cognitive impairment among children. The underlying causes of mental retardation are extremely heterogeneous, and include significant genetic factors. The coexistence of neuropathology and cognitive deficits supports the view that mental retardation is a disorder of brain development and plasticity. Rab3A, a member of the Rab small G protein family, is a key molecule in modulating basal neurotransmission and contributes to synaptic plasticity. The RAB3A gene is located on chromosome 19p13.11, near a region shown by a linkage study to be involved in the etiology of mental retardation. Because of both its function and chromosomal location, RAB3A is a potential candidate susceptibility gene for mental retardation. To investigate the possible genetic contribution of the RAB3A gene, we performed a case-control association study focused on the Han population of northwestern China using four common SNPs in the gene (rs7259012, rs17683539, rs2271882, and rs874628). Pairwise linkage disequilibrium analysis showed that the four SNPs were in linkage disequilibrium. However, there were no significant differences of either allele or genotype frequencies at any of the SNPs nor any significant differences in haplotype distributions between cases and controls. In conclusion, we have found no evidence for RAB3A conferring susceptibility on mental retardation in the Han Chinese population.

    Neuroscience letters 2006;401;1-2;114-8

Literature (1)

Pubmed - other

  • Variants in the RAB3A gene are not associated with mental retardation in the Chinese population.

    Sun Y, Zhang F, Gao J, Gao X, Guo T, Shi Y, Tang W, Li S, Zheng Z, Zheng Y, Li X, Feng G and He L

    Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, Shanghai 200031, China.

    Mental retardation is a common form of cognitive impairment among children. The underlying causes of mental retardation are extremely heterogeneous, and include significant genetic factors. The coexistence of neuropathology and cognitive deficits supports the view that mental retardation is a disorder of brain development and plasticity. Rab3A, a member of the Rab small G protein family, is a key molecule in modulating basal neurotransmission and contributes to synaptic plasticity. The RAB3A gene is located on chromosome 19p13.11, near a region shown by a linkage study to be involved in the etiology of mental retardation. Because of both its function and chromosomal location, RAB3A is a potential candidate susceptibility gene for mental retardation. To investigate the possible genetic contribution of the RAB3A gene, we performed a case-control association study focused on the Han population of northwestern China using four common SNPs in the gene (rs7259012, rs17683539, rs2271882, and rs874628). Pairwise linkage disequilibrium analysis showed that the four SNPs were in linkage disequilibrium. However, there were no significant differences of either allele or genotype frequencies at any of the SNPs nor any significant differences in haplotype distributions between cases and controls. In conclusion, we have found no evidence for RAB3A conferring susceptibility on mental retardation in the Han Chinese population.

    Neuroscience letters 2006;401;1-2;114-8

© 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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