New Shank3 Gene Research

Recently there has been an increase in the volume of research devoted to the SHANK3 gene mutation as a cause of autism spectrum disorders (ASD). Below we have compiled a selection of these recent studies.

Shank mutant mice as an animal model of autism: This review describes the effect of the Shank family of proteins on autism.

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice: Through analysis of Shank3 mutant mice, the authors of this study demonstrate the complexity of Shank3 transcriptional regulation in mouse brains. Their analyses show that different Shank3 isoforms have different functions, and thus distinct dysfunctions in transcriptional regulation of Shank3 cause phenotypic diversity. They predict the same applies to patients with ASD.

Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases: Through a close study of six Italian patients with 22q13.3 deletion syndrome/Phelan-McDermid Syndrome, this analysis found the syndrome in a small subgroup to be associated with childhood epilepsy and a peculiar clinical and EEG pattern.

Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit Maturation: The authors of this study compared the development of multisensory integration in the insular cortex of “behaviorally distinct mouse strains.” The findings of this study help to explain significant a neural circuit important for neuropsychiatric conditions, such as autism and schizophrenia.

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