ASSOCIATION OF THE SHANK3 GENE COUPLED WITH 22Q13.3 DELETION SYNDROME
Keywords:
Phelan- McDermid syndrome (PMS), microdeletion, SHANK3, 22q13.3.Abstract
Phelan-McDermid syndrome (PMS) is a postnatal neurodegenerative disorder which is caused by the mutation in the gene called SHANK3, a member of the highly conserved Shank/ProSAP family of synaptic scaffolding proteins. The haploinsufficiency as well as genetic alterations of SHANK3 gene is responsible for the deletion of 22q13.3. The function of SHANK3 is to connect ion channels and receptors in the post-synaptic membrane to the cytoskeleton and to signal transduction pathways. So, to understand the cause of PMS, it is necessary to know the mechanism of SHANK3 pathways. Thus the article aims to explain the in depth about many aspects of clinical and genetic facets of 22q13.3 deletion syndrome, with more importance in the domain architecture of SHANK3 protein, and by shedding light on the haploinsufficiency mutations involved in the protein families related to the upstream and downstream signal transduction and its clinical effect.
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