Evidence map›Paper›PMID 34210361›Full record

ArticleClinical epigenetics2021

DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.

Richard S Lee, Sophia Q Song, Henri M Garrison-Desany, Jenny L Carey, Patricia Lasutschinkow, Andrew Zabel, Joseph Bressler, Andrea Gropman, Carole Samango-Sprouse

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical epigenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Richard S LeeThe Mood Disorders Center, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sophia Q SongDepartment of Research, The Focus Foundation, Davidsonville, MD, USA.
Henri M Garrison-DesanyDepartment of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA.
Jenny L CareyThe Mood Disorders Center, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Patricia LasutschinkowDepartment of Research, The Focus Foundation, Davidsonville, MD, USA.
Andrew ZabelKennedy Krieger Institute, Baltimore, MD, USA.
Joseph BresslerKennedy Krieger Institute, Baltimore, MD, USA.
Andrea GropmanDepartment of Neurology, George Washington University, Washington, DC, USA.
Carole Samango-SprouseDepartment of Research, The Focus Foundation, Davidsonville, MD, USA. cssprouse@email.gwu.edu.ORCID 0000-0001-9941-0568
Johns Hopkins University · USKennedy Krieger Institute · USChildren's National · USGeorge Washington University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundEqual dosage of X-linked genes between males and females is maintained by the X-inactivation of the second X chromosome in females through epigenetic mechanisms. Boys with aneuploidy of the X chromosome exhibit a host of symptoms such as low fertility, musculoskeletal anomalies, and cognitive and behavioral deficits that are presumed to be caused by the abnormal dosage of these genes. The objective of this pilot study is to assess the relationship between CpG methylation, an epigenetic modification, at several genes on the X chromosome and behavioral dysfunction in boys with supernumerary X chromosomes.

resultsTwo parental questionnaires, the Behavior Rating Inventory of Executive Function (BRIEF) and Child Behavior Checklist (CBCL), were analyzed, and they showed expected differences in both internal and external behaviors between neurotypical (46,XY) boys and boys with 49,XXXXY. There were several CpGs in AR and MAOA of boys with 49,XXXXY whose methylation levels were skewed from levels predicted from having one active (Xa) and three inactive (Xi) X chromosomes. Further, methylation levels of multiple CpGs in MAOA showed nominally significant association with externalizing behavior on the CBCL, and the methylation level of one CpG in AR showed nominally significant association with the BRIEF Regulation Index.

conclusionsBoys with 49,XXXXY displayed higher levels of CpG methylation at regulatory intronic regions in X-linked genes encoding the androgen receptor (AR) and monoamine oxidase A (MAOA), compared to that in boys with 47,XXY and neurotypical boys. Our pilot study results suggest a link between CpG methylation levels and behavior in boys with 49,XXXXY.

Indexed as

AneuploidyChild, PreschoolChromosomes, Human, XDNA MethylationHumansInfantMalePilot ProjectsProblem BehaviorPsychometricsSex Chromosome AberrationsSex Chromosome DisordersSurveys and QuestionnairesXYY Karyotype47,XXY49,XXXXYDNA methylationExecutive functioningExternalizing disordersInternalizing disordersMAOASex chromosome aneuploidies

Identifiers

PMID34210361
PMCPMC8252231
OpenAlexW3176759798

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.