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Series GSE20533 Query DataSets for GSE20533
Status Public on May 01, 2010
Title Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary 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.
 
Contributor(s) Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Endris V, Roberts W, Szatmari P, Dalila P, Bonin M, Riess A, Engels H, Rolf S, Moog U, Scherer SW, Rappold GA
Citation(s) 20473310
Submission date Feb 25, 2010
Last update date Jan 17, 2019
Contact name Michael Bonin
Organization name University Tuebingen
Department Medical Genetics
Lab Microarray Facility
Street address CAlwerstr. 7
City Tuebingen
State/province BW
ZIP/Postal code 72076
Country Germany
 
Platforms (2)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
GPL6983 Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C)
Samples (6)
GSM515679 Genotyping data from one patient with unexplained mental retardation and a deletion of Shank2 gene
GSM515692 Genotyping data from one father of a patient with unexplained mental retardation and a deletion of Shank2 gene
GSM516099 Genotyping data from one mother of a patient with unexplained mental retardation and a deletion of Shank2 gene
Relations
BioProject PRJNA125149

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE20533_RAW.tar 199.0 Mb (http)(custom) TAR (of CEL)
GSE20533_raw_data.txt.gz 45.8 Mb (ftp)(http) TXT
Processed data included within Sample table

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