Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Abstract excerpt

SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language,...

Topics

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• Adolescent
• Alleles
• Autistic Disorder
• DNA Mutational Analysis
• Exome Sequencing