Implications of the Neurexin Gene Family in Autism Spectrum Disorder
DOI:
https://doi.org/10.47611/jsrhs.v10i4.2210Keywords:
autism, ASD, severity, risk variants, neurexins, synapsesAbstract
The neurexin gene family, consisting of NRXN1, NRXN2 and NRXN3 are presynaptic cell adhesion molecules and receptors that are needed in the development and differentiation of synaptic function and neural development. When microdeletions and loss of function variations are expressed, they can encode proteins that result in synaptic disruptions and disrupted neurotransmission, leading to a higher risk for developmental disorders and neuropsychiatric conditions. NRXN genes are strong candidate genes linked to ASD risk susceptibility, with all three noted as high confidence risk factors according to the SFARI Gene Database. In this review, we will go over case studies of NRXN mutations in ASD individuals, explain the results and provide insight into incomplete penetrance and further areas of support.
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