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2019
Siu, M T; Butcher, D T; Turinsky, A L; Cytrynbaum, C; Stavropoulos, D J; Walker, S; Caluseriu, O; Carter, M; Lou, Y; Nicolson, R; Georgiades, S; Szatmari, P; Anagnostou, E; Scherer, S W; Choufani, S; Brudno, M; Weksberg, R
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants Journal Article
In: Clinical Epigenetics, vol. 11, no. 1, pp. 103, 2019, ISSN: 1868-7083.
Abstract | Links | BibTeX | Tags: Autism spectrum disorder, DNA methylation, epigenetics, Genetic stratification, Genomic variants, Heterogeneity
@article{siu_functional_2019,
title = {Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants},
author = {M T Siu and D T Butcher and A L Turinsky and C Cytrynbaum and D J Stavropoulos and S Walker and O Caluseriu and M Carter and Y Lou and R Nicolson and S Georgiades and P Szatmari and E Anagnostou and S W Scherer and S Choufani and M Brudno and R Weksberg},
url = {https://doi.org/10.1186/s13148-019-0684-3},
doi = {10.1186/s13148-019-0684-3},
issn = {1868-7083},
year = {2019},
date = {2019-01-01},
urldate = {2021-05-26},
journal = {Clinical Epigenetics},
volume = {11},
number = {1},
pages = {103},
abstract = {Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (textgreater 200 ASD-risk genes), no single gene variant accounts for textgreater 1% of all ASD cases. A role for epigenetic mechanisms in ASD etiology is supported by the fact that many ASD-risk genes function as epigenetic regulators and evidence that epigenetic dysregulation can interrupt normal brain development. Gene-specific DNAm profiles have been shown to assist in the interpretation of variants of unknown significance. Therefore, we investigated the epigenome in patients with ASD or two of the most common genomic variants conferring increased risk for ASD. Genome-wide DNA methylation (DNAm) was assessed using the Illumina Infinium HumanMethylation450 and MethylationEPIC arrays in blood from individuals with ASD of heterogeneous, undefined etiology (n = 52), and individuals with 16p11.2 deletions (16p11.2del},
keywords = {Autism spectrum disorder, DNA methylation, epigenetics, Genetic stratification, Genomic variants, Heterogeneity},
pubstate = {published},
tppubtype = {article}
}
Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (textgreater 200 ASD-risk genes), no single gene variant accounts for textgreater 1% of all ASD cases. A role for epigenetic mechanisms in ASD etiology is supported by the fact that many ASD-risk genes function as epigenetic regulators and evidence that epigenetic dysregulation can interrupt normal brain development. Gene-specific DNAm profiles have been shown to assist in the interpretation of variants of unknown significance. Therefore, we investigated the epigenome in patients with ASD or two of the most common genomic variants conferring increased risk for ASD. Genome-wide DNA methylation (DNAm) was assessed using the Illumina Infinium HumanMethylation450 and MethylationEPIC arrays in blood from individuals with ASD of heterogeneous, undefined etiology (n = 52), and individuals with 16p11.2 deletions (16p11.2del