ArticleAmerican journal of medical genetics. Part A2012
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 37 citations in OpenAlex.
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- De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.American journal of human genetics · 2020Article
- RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2020Review
- Copy number variations associated with fetal congenital kidney malformations.Molecular cytogenetics · 2020Article
- Autism spectrum disorder: insights into convergent mechanisms from transcriptomics.Nature reviews. Genetics · 2019Review
- Genome-wide association study identifiesAnnals of translational medicine · 2018Article
- rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.Nature communications · 2018Article
- Genomics of autism spectrum disorder: approach to therapy.F1000Research · 2018Review
- Developmental regulation of RNA processing by Rbfox proteins.Wiley interdisciplinary reviews. RNA · 2017Review
- Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.PLoS genetics · 2017Article
- Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.Molecular autism · 2017Article
- Review
- Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation.Developmental cell · 2016Article
- MiR-980 Is a Memory Suppressor MicroRNA that Regulates the Autism-Susceptibility Gene A2bp1.Cell reports · 2016Article
- New genes for focal epilepsies with speech and language disorders.Current neurology and neuroscience reports · 2015Review
- The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function.Human molecular genetics · 2015Article
- ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin.PloS one · 2015Article
- Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.Molecular autism · 2015Article
- Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.American journal of human genetics · 2014Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.