Evidence map›Paper›PMID 39669602›Full record

ArticleGenetics in medicine open2024

Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or

Timothy E Green, Denisse Garza, Natasha J Brown, Michelle G de Silva, Mark F Bennett, Caitlin Tubb, Roderic J Phillips, Duncan MacGregor, Susan J Robertson, Phillip Bekhor and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 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
–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

1 citing paper in PubMed.

  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

13 authors.

Timothy E GreenEpilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.
Denisse GarzaVictorian Clinical Genetics Services, Melbourne, Parkville, Australia.
Natasha J BrownVictorian Clinical Genetics Services, Melbourne, Parkville, Australia.
Michelle G de SilvaVictorian Clinical Genetics Services, Melbourne, Parkville, Australia.
Mark F BennettEpilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.
Caitlin TubbEpilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.
Roderic J PhillipsDepartment of General Medicine, Royal Children's Hospital, Melbourne, Australia.
Duncan MacGregorAnatomical Pathology, Royal Children's Hospital, Parkville, Australia.
Susan J RobertsonMurdoch Children's Research Institute, Melbourne, Parkville, Australia.
Phillip BekhorRoyal Children's Hospital Department of Paediatrics, University of Melbourne, Parkville, Australia.
Jodie SimpsonDepartment of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Australia.
Anthony J PeningtonMurdoch Children's Research Institute, Melbourne, Parkville, Australia.
Michael S HildebrandEpilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Drugs that attenuate hyperactivation of the phosphatidylinositol 3-kinase-Akt and Ras-mitogen-activated protein kinase signaling pathways are emerging treatments for children with rare, intractable vascular anomalies or Methods: We applied a novel genetic testing strategy to children with vascular anomalies or PROS using a tiered approach of (1) droplet digital PCR, (2) Sanger sequencing, (3) high-depth exome sequencing, and (4) reanalysis of existing clinical exome data. Results: We applied this strategy to 60 individuals detecting pathogenic somatic variants in 33 of 60 (55%). This included 26 individuals with slow-flow lesions with variants in Conclusion: We demonstrate an effective genetic diagnostic strategy for children with vascular anomalies or PROS identifying somatic variants in 55% of individuals. Increasing genetic diagnostic yield extends the clinicogenetic spectrum and may provide access for those with intractable disease to therapeutic drug trials.

Indexed as

Droplet digital PCRGenetic diagnosisMosaicismPROSVascular anomalies

Identifiers

PMID39669602
PMCPMC11613910

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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.