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Dataset Information

33

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation


ABSTRACT: Autism spectrum disorder (ASD) and mental retardation (MR) represent clinically distinct neurodevelopmental disorders with a complex genetic etiology. Using microarrays we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated ASD and MR patients; DNA sequencing of SHANK2 revealed additional variants including a de novo nonsense mutation and 7 rare inherited changes. Our findings further link common genes between ASD and intellectual disability. Overall design: We analyzed a patients with autism spectrum disorder and mental retardation (with their related parents) using whole genome SNP arrays.

INSTRUMENT(S): [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

ORGANISM(S): Homo sapiens  

SUBMITTER: Michael Bonin 

PROVIDER: GSE20533 | GEO | 2010-05-01

SECONDARY ACCESSION(S): PRJNA125149

REPOSITORIES: GEO

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