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| 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.
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| Overall design |
We analyzed a patients with autism spectrum disorder and mental retardation (with their related parents) using whole genome SNP arrays.
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| 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 |
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| Platforms (2) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
| GPL6983 |
Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) |
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| Samples (6)
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| 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 |
| GSM563176 |
Genotyping data from one patient with autism spectrum disorder and a deletion of SHANK2 gene |
| GSM563177 |
Genotyping data from one father of a patient with autism spectrum disorder and a deletion of SHANK2 gene |
| GSM563178 |
Genotyping data from one mother of a patient with autism spectrum disorder and a deletion of SHANK2 gene |
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| Relations |
| BioProject |
PRJNA125149 |
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