| 1 | J Mol Psychiatry 2013 -1 1: 4 |
|---|---|
| PMID | 25408897 |
| Title | NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders. |
| Abstract | Microdeletions in the NRXN1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorders,schizophrenia, intellectual disability, speech and language delay, epilepsy and hypotonia. In the present study we performed array CGH analysis on 10,397 individuals referred for diagnostic cytogenetic analysis, using a custom oligonucleotide array, which included 215 NRXN1 probes (median spacing 4.9�kb). We found 34 NRXN1 deletions (0.33% of referrals) ranging from 9 to 942�kb in size, of which 18 were exonic (0.17%). Three deletions affected exons also in the beta isoform of NRXN1. No duplications were found. Patients had a range of phenotypes including developmental delay, learning difficulties, attention deficit hyperactivity disorder (ADHD), autism, speech delay, social communication difficulties, epilepsy, behaviour problems and microcephaly. Five patients who had deletions in NRXN1 had a second CNV implicated in neurodevelopmental disorder: a CNTNAP2 andCSMD3deletion in patients with exonic NRXN1 deletions, and a Williams-Beuren syndrome deletion and two 22q11.2 duplications in patients with intronic NRXN1 deletions. Exonic deletions in the NRXN1 gene, predominantly affecting the alpha isoform, were found in patients with a range of neurodevelopmental disorders referred for diagnostic cytogenetic analysis. The targeting of dense oligonucleotide probes to the NRXN1 locus on array comparative hybridisation platforms provides detailed characterisation of deletions in this gene, and is likely to add to understanding of the importance of NRXN1 in neural development. |
| SCZ Keywords | schizophrenia |
| 2 | Neurosci. Res. 2016 Mar -1: -1 |
| PMID | 27033969 |
| Title | CUB and Sushi multiple domains 3 regulates dendrite development. |
| Abstract | CUB and Sushi multiple domains 3 (CSMD3) is a large protein expressed in fetal and adult brain. Recently, mutations of theCSMD3gene were identified inschizophreniaand autism patients. However, biochemical properties and functions of theCSMD3蛋白质仍然未知。在这里,我们表明,CSMD3is an oligomeric type I transmembrane protein localized in the apical dendrites of hippocampal pyramidal neurons in the postnatal brain. In cultured hippocampal neurons,CSMD3is expressed only after 7 days in vitro. Overexpression ofCSMD3induced dendritic branching in hippocampal neurons. Regulation of dendritic morphology byCSMD3depended on the presence of its extracellular region, whileCSMD3intracellular region was dispensable for this activity. These results suggest thatCSMD3acts as a co-receptor of an unidentified membrane protein to regulate dendrite development. Therefore, malfunctions ofCSMD3may be one of the factors in the pathogenesis of psychiatric disorders. |
| SCZ Keywords | schizophrenia |