ArticleEuropean journal of human genetics : EJHG2009
A 15q13.3 microdeletion segregating with autism.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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Who cites it
72 citing papers in PubMed.
- Article
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.Molecular psychiatry · 2023Article
- Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.Children (Basel, Switzerland) · 2023Review
- Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.Nature genetics · 2022Article
- Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.American journal of human genetics · 2022Article
- Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.Frontiers in cell and developmental biology · 2022Review
- Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior.Molecular brain · 2021Article
- Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.Journal of epilepsy research · 2020Article
- Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.Molecular genetics & genomic medicine · 2020Article
- Separable neural mechanisms for the pleiotropic association of copy number variants with neuropsychiatric traits.Translational psychiatry · 2020Article
- First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.Molecular cytogenetics · 2019Article
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.American journal of human genetics · 2018Article
- Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Genome medicine · 2017Review
- Autism spectrum disorder: neuropathology and animal models.Acta neuropathologica · 2017Review
- Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Scientific reports · 2017Article
- Modulating Neuroinflammation to Treat Neuropsychiatric Disorders.BioMed research international · 2017Review
- The complex behavioral phenotype of 15q13.3 microdeletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Psychopharmacology · 2016Article
- Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.Experimental neurobiology · 2015Review
12 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors.
Funding
Abstract
Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.
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