ArticleHuman genetics2007
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Article in Human genetics, 2007. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
72 citing papers in PubMed, 131 citations in OpenAlex.
- Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.Molecular biology reports · 2020Trial
- Article
- Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.Molecular cell · 2026Article
- Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025Article
- Activity-Dependent Differential Regulation of Auts2 Isoforms In Vitro and In Vivo.Molecular neurobiology · 2023Article
- CRS: a circadian rhythm score model for predicting prognosis and treatment response in cancer patients.Journal of translational medicine · 2023Article
- The Chromatin-Oxygen Sensor GeneInternational journal of molecular sciences · 2022Article
- Article
- Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia.Frontiers in genetics · 2022Review
- BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation.Molecular cell · 2021Article
- Review
- Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.BMC psychiatry · 2021Review
- AUTS2 isoforms control neuronal differentiation.Molecular psychiatry · 2021Article
- Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants inFrontiers in cell and developmental biology · 2021Review
- Untangle the Multi-Facet Functions of Auts2 as an Entry Point to Understand Neurodevelopmental Disorders.Frontiers in psychiatry · 2021Review
- Article
- Glycosphingolipid metabolic reprogramming drives neural differentiation.The EMBO journal · 2018Article
- Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development.Genome biology and evolution · 2018Review
- The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders.Frontiers in cellular neuroscience · 2018Review
- Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line.Frontiers in oncology · 2018Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation. The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549-554, 1986; Sultana et al. in Genomics 80:129-134, 2002). Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation.
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Registered trials
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.