160
Views
0
CrossRef citations to date
0
Altmetric
Editorial

The Diagnostic Potential of the Epigenome in Autism Spectrum Disorders

ORCID Icon
Pages 1587-1590 | Received 30 Aug 2021, Accepted 23 Sep 2021, Published online: 07 Oct 2021

References

  • Wiśniowiecka-Kowalnik B , NowakowskaBA. Genetics and epigenetics of autism spectrum disorder-current evidence in the field. J. Appl. Genet.60(1), 37–47 (2019).
  • Aref-Eshghi E , KerkhofJ , PedroVPet al. Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders. Am. J. Hum. Genet.106(3), 356–370 (2020).
  • American Psychiatric Association . Diagnostic and Statistical Manual of Mental Disorders. 5th ed. American Psychiatric Association, VA, USA (2013).
  • Mesleh AG , AbdullaSA , El-AgnafO. Paving the way toward personalized medicine: current advances and challenges in multi-omics approach in autism spectrum disorder for biomarkers discovery and patient stratification. J. Pers. Med.11(1), 41 (2021).
  • Sharma SR , GondaX , TaraziFI. Autism spectrum disorder: classification, diagnosis and therapy. Pharmacol. Ther.190, 91–104 (2018).
  • Hodges H , FealkoC , SoaresN. Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl. Pediatr.9(S1), S55–S65 (2020).
  • World Health Organization . Autism spectrum disorders (2021). www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders
  • SFARI gene database . Human gene module (2021). https://gene.sfari.org/database/human-gene/
  • Masini E , LoiE , Vega-BenedettiAFet al. An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity. Int. J. Mol. Sci.21(21), 8290 (2020).
  • Wong CC , MeaburnEL , RonaldAet al. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol. Psychiatry19(4), 495–503 (2014).
  • Nguyen A , RauchTA , PfeiferGP , HuVW. Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J.24(8), 3036–3051 (2010).
  • Andrews SV , SheppardB , WindhamGCet al. Case–control meta-analysis of blood DNA methylation and autism spectrum disorder. Mol. Autism9, 40 (2018).
  • Siu MT , ButcherDT , TurinskyALet al. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin. Epigenetics11(1), 103 (2019).
  • Bend EG , Aref-EshghiE , EvermanDBet al. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Clin. Epigenetics11(1), 64 (2019).
  • Krzyzewska IM , MaasSM , HennemanPet al. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin. Epigenetics11(1), 156 (2019).
  • Sadikovic B , LevyMA , KerkhofJet al. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genet. Med.23(6), 1065–1074 (2021).
  • Wong CCY , SmithRG , HannonEet al. Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue. Hum. Mol. Genet.28(13), 2201–2211 (2019).
  • Mordaunt CE , JianuJM , LauferBIet al. Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes. Genome Med.12(1), 88 (2020).
  • Zhu Y , MordauntCE , YasuiDHet al. Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study. Hum. Mol. Genet.28(16), 2659–2674 (2019).
  • Hannon E , SchendelD , Ladd-AcostaCet al. Elevated polygenic burden for autism is associated with differential DNA methylation at birth. Genome Med.10(1), 19 (2018).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.