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Series GSE23358 Query DataSets for GSE23358
Status Public on Jun 25, 2011
Title Intellectual disability and mood disorder associated with partial deletion of the Neurexin 1 Gene
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary Abstract
Background
Neurexins are proteins located in the presynaptic membrane that bind postsynaptic ligands, neuroligins, neurexophilins, and dystrophoglycan. They exert profound effects on neurological function by mediating signalling across synapses and determining synaptic characteristics through the recruitment of additional proteins for synapse formation. Alterations in neurexin-encoding genes cause cognitive disorders such as autism, developmental delay and schizophrenia. The three neurexin genes in the human genome (NRXN1, NRXN2, and NRXN3) each have two different functional promoters, producing a large (alpha) and small (beta) transcript with corresponding proteins. NRXN1 produces hundreds, perhaps thousands, of different transcripts with differential localization in the CNS.
Results
We report here the identification of an individual (53825) with mild dysmorphia, severe language disorder, mild intellectual disability, attention deficit hyperactivity disorder (ADHD), and a mood disorder. Genomic analysis by Affymetrix 6.0 Gene Chip and FISH (fluorescence in situ hybridization) using probes specific for NRXN1 revealed a hemizygous deletion of approximately 190 Kb, which includes exons 3-5 of NRXN1. This deletion should result in the absence of the vast majority of different NRXN1 alpha transcripts from one of the NRXN1 gene copies, without effecting NRXN1 beta transcription.
 
Overall design Copy number analysis of Affymetrix 6.0 SNP arrays was performed according to the manufacturer's directions on DNA extracted from cryopreserved diagnostic bone marrow or peripheral blood samples for pediatric patients.
One sample showed partial deletion of NRXN1 alpha; data presented in this Series.
 
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Submission date Jul 31, 2010
Last update date Nov 27, 2018
Contact name Patricia Bray-Ward
E-mail(s) pbray-ward@medicine.nevada.edu, pward@crch.hawaii.edu
Phone 808-673-0333
Organization name University of Nevada School of Medicine
Department Pediatrics
Lab Genetics Laboratory
Street address 1707 W Charleston Blvd, 110B
City Las Vegas
State/province NV
ZIP/Postal code 89102
Country USA
 
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (1)
GSM573252 Subject53825
Relations
BioProject PRJNA131449

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
GSE23358_RAW.tar 35.6 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file

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