ArticlePediatric research2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.
Article in Pediatric research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- Characterization of Social and Repetitive Behaviors of Mllt11/Af1q/TcF7c Conditional Knockout Mice.The European journal of neuroscience · 2026Article
- SETDB1 amplification in osteosarcomas: Insights from its role in healthy tissues and other cancer types.Oncotarget · 2025Review
- Article
- Enhanced Expression of Human Endogenous Retroviruses, TRIM28 and SETDB1 in Autism Spectrum Disorder.International journal of molecular sciences · 2022Article
- Mllt11 Regulates Migration and Neurite Outgrowth of Cortical Projection Neurons during Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Structure, Activity and Function of the SETDB1 Protein Methyltransferase.Life (Basel, Switzerland) · 2021Review
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- The Epigenome in Neurodevelopmental Disorders.Frontiers in neuroscience · 2021Review
- Epigenetic mechanism of SETDB1 in brain: implications for neuropsychiatric disorders.Translational psychiatry · 2020Review
- Spatial genome exploration in the context of cognitive and neurological disease.Current opinion in neurobiology · 2019Review
- Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.BMC medical genetics · 2017Article
- Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Scientific reports · 2017Article
- The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain.Nature genetics · 2017Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundThe pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in clinic.
methodsWe analyzed the findings of CNV studies from a cohort referred for genetics evaluation of autism spectrum disorders (ASD), developmental disability (DD), and intellectual disability (ID).
resultsTwenty-two CNV in 21 out of 115 probands are considered to be pathogenic (18.3%). Five CNV are likely pathogenic and 22 CNV are variants of unknown significance (VUS). We have found seven cases with more than two CNV and two with a complex rearrangement of the 22q13.3 Phelan-McDermid syndrome region. We identified a new and de novo 1q21.3 deletion that encompasses SETDB1, a gene encoding methylates histone H3 on lysine-9 (H3K9) methyltransferase, in a case with ASD.
conclusionWe provide evidence to support the value of CNV analysis in etiological evaluation of neurodevelopmental disorders in autism genetics clinic. However, interpretation of the clinical significance and counseling families are still challenging because of the variable penetrance and pleotropic expressivity of CNV. In addition, the identification of a 1q21.3 deletion encompassing SETDB1 provides further support for the role of chromatin modifiers in the etiology of ASD.
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