Evidence map›Paper›PMID 38125503›Full record

ArticleHeliyon2023

CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.

Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G Stefanou, Carolina Sismani

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

Article in Heliyon, 2023. 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
0.9field-weighted citation impact, top 19% 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. Adult Phenotype ofNeurology. Genetics · 2024
    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

8 authors at 3 institutions in 3 countries.

Eleni AngelopoulouLaboratory of Medical Genetics, University General Hospital of Patras, 26504 Rio, Greece.
Athina TheodosiouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371, Nicosia, Cyprus.
Ioannis PapaevripidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371, Nicosia, Cyprus.
Angelos AlexandrouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371, Nicosia, Cyprus.
Thomas LiehrJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, 07747 Jena, Germany.
Yolanda GyftodimouATG-ACCESS TO GENOME, Michalakopoulou 139, 11528 Athens, Greece.
Eunice G StefanouLaboratory of Medical Genetics, University General Hospital of Patras, 26504 Rio, Greece.
Carolina SismaniDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371, Nicosia, Cyprus.
Cyprus Institute of Neurology and Genetics · CYGeneral University Hospital of Patras · GRJena University Hospital · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosomal inversions are usually balanced structural chromosomal rearrangements that do not have an impact on the clinical phenotype of a carrier. The main clinical consequence of inversions is the risk for unbalanced gametes and offspring with severe phenotypes. Rarely though, inversions are associated with a phenotype, mainly due to submicroscopic Copy Number Variants (CNVs) or disruption at the breakpoints of a functionally important gene and/or genomic elements. In this study, a paracentric inversion of chromosome 16 [inv(16)(q22.3q24.1)] was identified in a three-generation family with discordant phenotypes with/without epilepsy and/or intellectual impairment, as well as with an unaffected carrier. This finding was confirmed by fluorescence in situ hybridization (FISH). Genetic investigation, initially with chromosomal microarray (CMA), did not reveal any copy number variants. Finally, Clinical Exome Sequencing (CES), detected the presence of a pathogenic nonsense variant (rs797044912) in the Chromodomain Helicase DNA-binding protein 2 (

Indexed as

CHD2Clinical exome sequencing (CES)Developmental epileptic encephalopathyFamilialInheritedParacentric inversion 16Seizure

Identifiers

PMID38125503
PMCPMC10731059
OpenAlexW4389101369

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.