Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran.

Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the gene, which induces substitution of isoleucine to threonine and affects the function of the resulted protein.

The association of SHANK3 gene polymorphism and autism.

Background: Autism spectrum disorder (ASD) and Autism are both general terms for a group of complex disorders of brain development. These disorders are characterized by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Many genes have been shown to be involved in Autism.