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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE20533 | GEO | 2010/05/01

SECONDARY ACCESSION(S): PRJNA125149

REPOSITORIES: GEO