{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:16:50Z","timestamp":1790813810783,"version":"4.1.0"},"reference-count":71,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute of Health","award":["GM113929-01"],"award-info":[{"award-number":["GM113929-01"]}]},{"name":"National Institute of Health","award":["P50HD103526"],"award-info":[{"award-number":["P50HD103526"]}]},{"name":"National Institute of Health","award":["UL1TR001860"],"award-info":[{"award-number":["UL1TR001860"]}]},{"name":"National Institute of Health","award":["R40MC27701"],"award-info":[{"award-number":["R40MC27701"]}]},{"name":"Health Resources &amp; Services Administration","award":["GM113929-01"],"award-info":[{"award-number":["GM113929-01"]}]},{"name":"Health Resources &amp; Services Administration","award":["P50HD103526"],"award-info":[{"award-number":["P50HD103526"]}]},{"name":"Health Resources &amp; Services Administration","award":["UL1TR001860"],"award-info":[{"award-number":["UL1TR001860"]}]},{"name":"Health Resources &amp; Services Administration","award":["R40MC27701"],"award-info":[{"award-number":["R40MC27701"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autism spectrum disorder (ASD) is an early onset, developmental disorder whose genetic cause is heterogeneous and complex. In total, 70% of ASD cases are due to an unknown etiology. Among the monogenic causes of ASD, fragile X syndrome (FXS) accounts for 2\u20134% of ASD cases, and 60% of individuals with FXS present with ASD. Epigenetic changes, specifically DNA methylation, which modulates gene expression levels, play a significant role in the pathogenesis of both disorders. Thus, in this study, using the Human Methylation EPIC Bead Chip, we examined the global DNA methylation profiles of biological samples derived from 57 age-matched male participants (2\u20136 years old), including 23 subjects with ASD, 23 subjects with FXS with ASD (FXSA) and 11 typical developing (TD) children. After controlling for technical variation and white blood cell composition, using the conservatory threshold of the false discovery rate (FDR \u2264 0.05), in the three comparison groups, TD vs. AD, TD vs. FXSA and ASD vs. FXSA, we identified 156, 79 and 3100 differentially methylated sites (DMS), and 14, 13 and 263 differential methylation regions (DMRs). Interestingly, several genes differentially methylated among the three groups were among those listed in the SFARI Gene database, including the PAK2, GTF2I and FOXP1 genes important for brain development. Further, enrichment analyses identified pathways involved in several functions, including synaptic plasticity. Our preliminary study identified a significant role of altered DNA methylation in the pathology of ASD and FXS, suggesting that the characterization of a DNA methylation signature may help to unravel the pathogenicity of FXS and ASD and may help the development of an improved diagnostic classification of children with ASD and FXSA. In addition, it may pave the way for developing therapeutic interventions that could reverse the altered methylome profile in children with neurodevelopmental disorders.<\/jats:p>","DOI":"10.3390\/genes13101795","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T20:43:21Z","timestamp":1665261801000},"page":"1795","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5841-2927","authenticated-orcid":false,"given":"Mittal","family":"Jasoliya","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Medicine, University of California, Sacramento, CA 95817, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianlei","family":"Gu","sequence":"additional","affiliation":[{"name":"School of Public Health: Biostatistics, Yale University, New Haven, CT 06510, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reem R.","family":"AlOlaby","sequence":"additional","affiliation":[{"name":"College of Health Sciences, California Northstate University, Sacramento, CA 95757, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blythe","family":"Durbin-Johnson","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, Division of Biostatistics, University of California, Davis, CA 95616, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Chedin","sequence":"additional","affiliation":[{"name":"Davis, Genome Center, University of California, Davis, CA 95616, USA"},{"name":"Davis, Molecular & Cellular Biology, University of California, Davis, CA 95616, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6388-9180","authenticated-orcid":false,"given":"Flora","family":"Tassone","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Medicine, University of California, Sacramento, CA 95817, USA"},{"name":"MIND Institute, UC Davis, Sacramento, CA 95817, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,4]]},"reference":[{"key":"ref_1","first-page":"347","article-title":"Diagnostic and Statistical Manual of Mental Disorders (DSM)","volume":"12","author":"Widiger","year":"2011","journal-title":"Psychology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss6706a1","article-title":"Prevalence of Autism Spectrum Disorder among Children Aged 8 Years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014","volume":"67","author":"Baio","year":"2018","journal-title":"MMWR. 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