Association between the g.296596G &gt; A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population

Fu, Xiaorui; Mei, Zuguo; Sun, Lixin

doi:10.1590/s1415-47572013005000037

Cited by 5 publications

(3 citation statements)

References 31 publications

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“…Moreover, recent data suggest that a defect in reelin signaling pathway confers greater susceptibility to autism (20–25, 27). …”

Section: Discussionmentioning

confidence: 99%

“…Reelin is a glycoprotein playing a crucial role during development: it regulates neuronal migration and brain lamination ( 6 , 8 , 29 , 30 , 76 , 77 ) and its reduced or complete lack of signaling impairs neuronal connectivity and synaptic plasticity ( 43 , 78 ). Moreover, recent data suggest that a defect in reelin signaling pathway confers greater susceptibility to autism ( 20 – 25 , 27 ).…”

Section: Discussionmentioning

confidence: 99%

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Mapping Pathological Phenotypes in Reelin Mutant Mice

et al. 2014

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Autism Spectrum Disorders (ASD) are neurodevelopmental disorders with multifactorial origin characterized by social communication deficits and the presence of repetitive behaviors/interests. Several studies showed an association between the reelin gene mutation and increased risk of ASD and a reduced reelin expression in some brain regions of ASD subjects, suggesting a role for reelin deficiency in ASD etiology. Reelin is a large extracellular matrix glycoprotein playing important roles during development of the central nervous system. To deeply investigate the role of reelin dysfunction as vulnerability factor in ASD, we assessed the behavioral, neurochemical, and brain morphological features of reeler male mice. We recently reported a genotype-dependent deviation in the ultrasonic vocal repertoire and a general delay in motor development of reeler pups. We now report that adult male heterozygous (Het) reeler mice did not show social behavior and communication deficits during male–female social interactions. Wildtype and Het mice showed a typical light/dark locomotor activity profile, with a peak during the central interval of the dark phase. However, when faced with a mild stressful stimulus (a saline injection) only Het mice showed an over response to stress. In addition to the behavioral studies, we conducted high performance liquid chromatography and magnetic resonance imaging and spectroscopy to investigate whether reelin mutation influences brain monoamine and metabolites levels in regions involved in ASD. Low levels of dopamine in cortex and high levels of glutamate and taurine in hippocampus were detected in Het mice, in line with clinical data collected on ASD children. Altogether, our data detected subtle but relevant neurochemical abnormalities in reeler mice supporting this mutant line, particularly male subjects, as a valid experimental model to estimate the contribution played by reelin deficiency in the global ASD neurobehavioral phenotype.

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“…Moreover, recent data suggest that a defect in reelin signaling pathway confers greater susceptibility to autism (20–25, 27). …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mapping Pathological Phenotypes in Reelin Mutant Mice

et al. 2014

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“…While no correlation was observed for g.333509A > C, a significant frequency difference emerged for the g.504742G > A polymorphism ( Tian, 2012 ). Eventually, the g.296596G > A variant in RELN was found to exert a potential influence on autism susceptibility in a Chinese Han cohort of 205 patients ( Fu et al, 2013 ).…”

Section: Resultsmentioning

confidence: 99%

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights

et al. 2022

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Reelin is a secreted extracellular matrix protein playing pivotal roles in neuronal migration and cortical stratification during embryonal brain development. In the adult brain, its activity is crucial for synaptic plasticity, memory processing, and cognition. Genetic alterations in RELN have been variably reported as possible contributors to the pathogenesis of autism spectrum disorders (ASD). In particular, GCCs repeats in the 5′UTR, and single nucleotide polymorphysms (SNPs) in RELN have been suggested to affect brain development and predispose to autism. We reviewed pertinent literature on RELN expression and haplotypes transmission in children with ASD, critically analyzing available evidence in support of the pathophysiological association between Reelin deficiency and ASD.

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Immune Dysfunction in Autism Spectrum Disorder

Malkova

Hsiao

2016

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

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Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population

Cited by 5 publications

References 31 publications

Mapping Pathological Phenotypes in Reelin Mutant Mice

Mapping Pathological Phenotypes in Reelin Mutant Mice

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights

Immune Dysfunction in Autism Spectrum Disorder

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