ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 73 citations in OpenAlex.
- Article
- Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).Journal of neurodevelopmental disorders · 2025Article
- Quantitative proteomics of dorsolateral prefrontal cortex reveals an early pattern of synaptic dysmaturation in children with idiopathic autism.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Notch directs telencephalic development and controls neocortical neuron fate determination by regulating microRNA levels.Development (Cambridge, England) · 2023Article
- Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation.Journal of cardiovascular development and disease · 2022Article
- Transcriptome Analysis in Hippocampus of Rats Prenatally Exposed to Valproic Acid and Effects of Intranasal Treatment of Oxytocin.Frontiers in psychiatry · 2022Article
- Article
- Sex differences in the effects of prenatal bisphenol A exposure on autism-related genes and their relationships with the hippocampus functions.Scientific reports · 2021Article
- Chromoanasynthesis as a cause of Jacobsen syndrome.American journal of medical genetics. Part A · 2020Article
- Review
- Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome: A case report and review of the literature.Medicine · 2020Review
- Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.Cold Spring Harbor molecular case studies · 2019Article
- Intellectual disability and autism spectrum disorders 'on the fly': insights fromDisease models & mechanisms · 2019Review
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.Molecular autism · 2018Article
- PDE11A negatively regulates lithium responsivity.Molecular psychiatry · 2017Article
- Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.Journal of pediatric genetics · 2017Article
- De novo genic mutations among a Chinese autism spectrum disorder cohort.Nature communications · 2016Article
- Identification of an elaborate complex mediating postsynaptic inhibition.Science (New York, N.Y.) · 2016Article
- Interstitial 11q24 deletion: a new case and review of the literature.Journal of applied genetics · 2016Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeJacobsen syndrome, also called the 11q terminal deletion disorder, is a contiguous gene disorder caused by the deletion of the end of the long arm of chromosome 11. Intellectual skills range from low average to severe/profound intellectual disability and usually correlate with deletion size. Comprehensive genotype/phenotype evaluations are limited, and little is known about specific behavioral characteristics associated with 11q terminal deletion disorder.
methodsIn this prospective study, 17 patients with 11q terminal deletion disorder underwent cognitive and behavioral assessments. Deletion sizes were determined by array comparative genomic hybridization.
resultsDeletion sizes ranged from 8.7 to 14.5 Mb across the patients. We found that 8 of 17 patients (47%) exhibited behavioral characteristics consistent with an autism spectrum disorder diagnosis. There was no correlation between deletion size and the presence of autism spectrum disorder, implicating at least one predisposing gene in the distal 8.7 Mb of 11q. The findings from three additional patients with autistic features and "atypical" distal 11q deletions led to the identification of an autism "critical region" in distal 11q containing four annotated genes including ARHGAP32 (also known as RICS), a gene encoding rho GTPase activating protein.
conclusionResults from this study support early autism spectrum disorder screening for patients with 11q terminal deletion disorder and provide further molecular insights into the pathogenesis of autism spectrum disorder.
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