ArticleMolecular genetics & genomic medicine2014
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- Intrafamilial Variability inInternational journal of molecular sciences · 2026Review
- Detection of structural DNA variants in medulloblastomas using optical genome mapping.Acta neuropathologica communications · 2026Article
- Landscape ofJournal of clinical medicine · 2024Review
- Auditory brainstem responses are resistant to pharmacological modulation in Sprague Dawley wild-type and Neurexin1α knockout rats.BMC neuroscience · 2024Article
- Review
- Case Report-An Inherited Loss-of-FunctionGenes · 2023Article
- Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.Frontiers in molecular neuroscience · 2023Article
- Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility.Human molecular genetics · 2022Article
- NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review.Children (Basel, Switzerland) · 2022Article
- NRXN1αBMC neuroscience · 2021Article
- Clinical evaluation of patients with a neuropsychiatric risk copy number variant.Current opinion in genetics & development · 2021Review
- Neurexins: molecular codes for shaping neuronal synapses.Nature reviews. Neuroscience · 2021Review
- The Role of Genetics in Bipolar Disorder.Current topics in behavioral neurosciences · 2021Article
- Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders.Molecular psychiatry · 2019Review
- Differential expression of neurexin genes in the mouse brain.The Journal of comparative neurology · 2019Article
- The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.Molecular genetics & genomic medicine · 2019Article
- Increased CaMolecular autism · 2019Article
- High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.Behavior genetics · 2018Article
- Reexamining Dis/Similarity-Based Tests for Rare-Variant Association with Case-Control Samples.Genetics · 2018Article
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10 authors.
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Abstract
Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance.
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