ArticleHuman molecular genetics2012
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
Article in Human molecular genetics, 2012. 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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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
25 citing papers in PubMed, 50 citations in OpenAlex.
- Inferring the Relative Contributions of Evolutionary Processes Shaping X Chromosome Dynamics in the Common Marmoset (Callithrix jacchus) in the Presence of Twinning and Hematopoietic Chimerism.Genome biology and evolution · 2026Article
- MeCP2 interacts with the super elongation complex to regulate transcription.Science advances · 2025Article
- The Role of mRNA Alternative Processing in Mammalian Neurodevelopment.International journal of molecular sciences · 2025Review
- X chromosome-wide association study of quantitative biomarkers from the Alzheimer's Disease Neuroimaging Initiative study.Frontiers in aging neuroscience · 2023Article
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Genetic analysis of neurodevelopmental disorders in children.Frontiers in child and adolescent psychiatry · 2022Article
- Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- GC-rich repeat expansions: associated disorders and mechanisms.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2021Article
- Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its "Epidemic Rates".Journal of personalized medicine · 2021Article
- Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.Journal of neurodevelopmental disorders · 2020Article
- Article
- Coalitional Game Theory Facilitates Identification of Non-Coding Variants Associated With Autism.Biomedical informatics insights · 2019Article
- Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.Journal of medical case reports · 2018Article
- Bio-collections in autism research.Molecular autism · 2017Review
- Peripheral Inflammatory Markers Contributing to Comorbidities in Autism.Behavioral sciences (Basel, Switzerland) · 2016Article
- Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.EMBO molecular medicine · 2015Article
- Identification of Rare, Single-Nucleotide Mutations in NDE1 and Their Contributions to Schizophrenia Susceptibility.Schizophrenia bulletin · 2015Article
- Identification of differential splicing genes in gliomas using exon expression profiling.Molecular medicine reports · 2015Article
- FRA2A is a CGG repeat expansion associated with silencing of AFF3.PLoS genetics · 2014Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Autism spectrum disorder (ASD) is a heterogeneous disorder with substantial heritability, most of which is unexplained. ASD has a population prevalence of one percent and affects four times as many males as females. Patients with fragile X E (FRAXE) intellectual disability, which is caused by a silencing of the X-linked gene AFF2, display a number of ASD-like phenotypes. Duplications and deletions at the AFF2 locus have also been reported in cases with moderate intellectual disability and ASD. We hypothesized that other rare X-linked sequence variants at the AFF2 locus might contribute to ASD. We sequenced the AFF2 genomic region in 202 male ASD probands and found that 2.5% of males sequenced had missense mutations at highly conserved evolutionary sites. When compared with the frequency of missense mutations in 5545 X chromosomes from unaffected controls, we saw a statistically significant enrichment in patients with ASD (OR: 4.9; P < 0.014). In addition, we identified rare AFF2 3' UTR variants at conserved sites which alter gene expression in a luciferase assay. These data suggest that rare variation in AFF2 may be a previously unrecognized ASD susceptibility locus and may help explain some of the male excess of ASD.
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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.