Evidence map›Paper›PMID 37904029›Full record

ArticleJournal of human genetics2024

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Aren E Marshall, Yijing Liang, Madeline Couse, Haley McConkey, Care4Rare Canada Consortium, Bekim Sadikovic, Kym M Boycott, David A Dyment, Kristin D Kernohan

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2024. 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
0.3field-weighted citation impact, top 28% 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, 1 citations in OpenAlex.

  1. 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

9 authors at 8 institutions in 1 country.

Aren E MarshallChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada.ORCID http://orcid.org/0000-0003-2803-0941
Yijing LiangCentre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.
Madeline CouseCentre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.
Haley McConkeyDepartment of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.
Care4Rare Canada Consortium
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.ORCID http://orcid.org/0000-0001-6363-0016
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada.
David A DymentChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada. ddyment@cheo.on.ca.
Kristin D KernohanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada. kkernohan@cheo.on.ca.
University of Calgary · CAUniversity of Toronto · CAUniversity of Ottawa · CAChildren's Hospital of Eastern Ontario · CAHospital for Sick Children · CAUniversity of British Columbia · CAWestern University · CAMcGill University · CA

Funding

Genome Canada (Génome Canada) OGI-147Genome Canada (Génome Canada) OGI-188Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) FDN-154279Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) MFE-176616Ontario Genomics Institute (OGI) OGI-147Ontario Genomics Institute (OGI) OGI-188
6 · The paper itself

Abstract

Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported cause of human disease. X-linked dominant variants in ATRX are associated with Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATR-X syndrome), a clinically heterogeneous disease generally presenting with intellectual disability, hypotonia, characteristic facies, genital anomalies, and alpha-thalassemia. We describe an affected male with a de novo hemizygous intragenic duplication of ~43.6 kb in ATRX, detected by research genome sequencing following non-diagnostic clinical testing. RNA sequencing and DNA methylation episignature analyses were central in variant interpretation, and this duplication was subsequently interpreted as disease-causing. This represents the smallest reported tandem duplication within ATRX associated with disease. This case demonstrates the diagnostic utility of integrating multiple omics technologies, which can ultimately lead to a definitive diagnosis for rare disease patients.

Indexed as

alpha-ThalassemiaIntellectual DisabilityX-Linked Intellectual DisabilityDNA Copy Number VariationsHumansMaleX-linked Nuclear ProteinATRX protein, humanX-linked Nuclear Protein

Identifiers

PMID37904029
OpenAlexW4388034542

What Socratic holds

Textmetadata
Read underepoch 390

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 Socratic graph.