ArticleNeuropsychopharmacology : official publication of the American College of Neuropsychopharmacology2020
Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome.
Article in Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 32 citations in OpenAlex.
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Brain lateralization for perceiving direction of motion is reversed in Williams syndrome and related to BUD23.Scientific reports · 2025Article
- Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.Journal of autism and developmental disorders · 2025Article
- Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan.Journal of autism and developmental disorders · 2024Article
- Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controls.Nature communications · 2024Article
- In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development.Molecular psychiatry · 2023Article
- Case report: Molecular characterisation of adipose-tissue derived cells from a patient with ROHHAD syndrome.Frontiers in pediatrics · 2023Article
- Placental DNA methylation changes in gestational diabetes mellitus.Epigenetics · 2022Article
- Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
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Authors and funding
13 authors at 4 institutions in 4 countries.
Funding
Abstract
Williams syndrome (WS) is a rare genetic disorder, caused by a microdeletion at the 7q11.23 region. WS exhibits a wide spectrum of features including hypersociability, which contrasts with social deficits typically associated with autism spectrum disorders. The phenotypic variability in WS likely involves epigenetic modifications; however, the nature of these events remains unclear. To better understand the role of epigenetics in WS phenotypes, we integrated DNA methylation and gene expression profiles in blood from patients with WS and controls. From these studies, 380 differentially methylated positions (DMPs), located throughout the genome, were identified. Systems-level analysis revealed multiple co-methylation modules linked to intermediate phenotypes of WS, with the top-scoring module related to neurogenesis and development of the central nervous system. Notably, ANKRD30B, a promising hub gene, was significantly hypermethylated in blood and downregulated in brain tissue from individuals with WS. Most CpG sites of ANKRD30B in blood were significantly correlated with brain regions. Furthermore, analyses of gene regulatory networks (GRNs) yielded master regulator transcription factors associated with WS. Taken together, this systems-level approach highlights the role of epigenetics in WS, and provides a possible explanation for the complex phenotypes observed in patients with WS.
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