Evidence map›Paper›PMID 39494246›Full record

ArticleBiological psychiatry global open science2024

Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome.

Isabella G Larsen, Rachel Gore Moses, Bryce A Seifert, Siyuan Liu, Samuel Li, Andrew J Oler, Elizabeth Levitis, Lukas Schaffer, Rylee Duncan, Colleen Jodarski and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biological psychiatry global open science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. Article
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

20 authors.

Isabella G LarsenSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Rachel Gore MosesCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Bryce A SeifertCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Siyuan LiuSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Samuel LiBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Andrew J OlerBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Elizabeth LevitisSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Lukas SchafferInstitute for Behavioral Genetics, University of Colorado Boulder, Boulder, Colorado.
Rylee DuncanDepartment of Psychology, Ohio State University, Columbus, Ohio.
Colleen JodarskiCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Michael KamenCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Jia YanSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
François M LalondeSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Rajarshi GhoshCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Erin TorresSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Liv S ClasenSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Jonathan BlumenthalSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Morgan SimilukCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Armin RaznahanSection on Developmental Neurogenomics, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Magdalena A WalkiewiczCentralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: X chromosome parent of origin (POX) has been proposed as a source of phenotypic variation within sex chromosome aneuploidies such as Klinefelter syndrome (XXY/KS) and between XX and XY individuals. However, previous studies have yielded conflicting results regarding the presence and nature of POX effects, which we sought to clarify in an expanded sample with deeper neurobehavioral phenotyping. Methods: A cohort of 58 individuals with XXY/KS underwent duo or trio genome sequencing with parents ( Results: The uniparental disomy visualization for variant call format files algorithm showed maternal POX in 35 of 58 cases (60.3%). There were no statistically significant POX effects on any of the 66 subscale measures of cognition, psychopathology, or behavior. Neuroimaging analysis identified 2 regions in the right hemisphere with significantly higher surface area (mean effect size = 1.20) among individuals with paternal versus maternal POX ( Conclusions: Using deeper phenotyping in an expanded sample, we did not find evidence for substantial POX effects on neurobehavioral variability, except for localized unilateral modulations of surface area in the absence of co-occurring behavioral associations. These findings help to clarify previous inconsistencies in POX research and direct attention toward other sources of clinical variability in sex chromosome aneuploidies.

Indexed as

47,XXYKlinefelter syndromeNeuroanatomyNeurodevelopmentX chromosome parent of origin

Identifiers

PMID39494246
PMCPMC11530756

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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.