ArticlePsychiatric genetics2012
Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.
Article in Psychiatric genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Pooled it
- High-Resolution Whole-Genome DNA Methylation Revealed Unique Signatures of Painful Diabetic Neuropathy.Diabetes · 2025Article
- Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder.iScience · 2025Article
- DNA Methylation ofBiomolecules · 2024Article
- Sexually dimorphic phenotypes and the role of androgen receptors in UBE3A-dependent autism spectrum disorder.bioRxiv : the preprint server for biology · 2024Article
- 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.European journal of human genetics : EJHG · 2023Review
- Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice.Molecular autism · 2022Article
- Somatic Mosaicism and Autism Spectrum Disorder.Genes · 2021Review
- A genome-wide methylation study reveals X chromosome and childhood trauma methylation alterations associated with borderline personality disorder.Translational psychiatry · 2021Article
- Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice.Translational psychiatry · 2020Article
- Somatic mosaicism and neurodevelopmental disease.Nature neuroscience · 2018Review
- AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder.Database : the journal of biological databases and curation · 2018Article
- Associations of the Intellectual Disability Gene MYT1L with Helix-Loop-Helix Gene Expression, Hippocampus Volume and Hippocampus Activation During Memory Retrieval.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2017Article
- Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.Human mutation · 2017Article
- Duplication 2p25 in a child with clinical features of CHARGE syndrome.American journal of medical genetics. Part A · 2016Article
- Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops.Neuron · 2016Review
- Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.European journal of human genetics : EJHG · 2015Article
- Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.International review of neurobiology · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Autism is a neurodevelopmental disorder with a strong genetic component to susceptibility. In this study, we report the molecular characterization of an apparent de-novo 281 kb duplication of chromosome 2p25.3 in two male half-siblings with autism. The 2p25.3 duplication was first identified through a low-density microarray, validated with fluorescent in-situ hybridization, and duplication breakpoints were delineated using an Affymetrix 6.0 single-nucleotide polymorphism microarray. The fluorescent in-situ hybridization results validated the novel copy number variant and revealed the mother to be mosaic, with ∼33% of her lymphoblast cells carrying the duplication. Therefore, the duplication was transmitted through the mechanism of germline mosaicism. In addition, duplication breakpoints were refined and showed that PXDN is fully duplicated, whereas seven exons of the terminal portion of the 25 exon gene MYT1L are within the duplicated region. MYT1L, a gene predominately expressed in the brain, has recently been linked with other neuropsychiatric illness such as schizophrenia and depression. Results from this study indicate that the 2p25.3 duplication disrupting PXDN and MYT1L is a potential autism-causing variant in the pedigree reported here and should receive further consideration as a candidate for autism.
Indexed as
Identifiers
What OpenQuestion holds
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.