Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
- 23 May 2012
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 20 (12), 1240-1247
- https://doi.org/10.1038/ejhg.2012.95
Abstract
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had intragenic deletions of NRXN1. Seventeen of these deletions involved exons of NRXN1, whereas seven deleted intronic sequences only. The patients with exonic deletions manifested developmental delay/intellectual disability (93%), infantile hypotonia (59%) and ASDs (56%). Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. The more C-terminal deletions, including those affecting the β isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1.Keywords
This publication has 31 references indexed in Scilit:
- Disruption of Neurexin 1 Associated with Autism Spectrum DisorderAmerican Journal of Human Genetics, 2008
- Neurexin–neuroligin signaling in synapse developmentCurrent Opinion in Neurobiology, 2007
- Novel genes identified in a high-density genome wide association study for nicotine dependenceHuman Molecular Genetics, 2006
- Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive functionTrends in Neurosciences, 2006
- The expression and alternative splicing of alpha-neurexins during Xenopus developmentThe International Journal of Developmental Biology, 2006
- Extracellular Domains of α-Neurexins Participate in Regulating Synaptic Transmission by Selectively Affecting N- and P/Q-Type Ca2+ChannelsJournal of Neuroscience, 2005
- Synaptic cell adhesion goes functionalTrends in Neurosciences, 2003
- Analysis of the Human Neurexin Genes: Alternative Splicing and the Generation of Protein DiversityGenomics, 2002
- CDC growth charts: United States.2000
- Neurexins: Three genes and 1001 productsTrends in Genetics, 1998