Evidence map›Paper›PMID 39606014›Full record

ArticleFrontiers in genetics2024

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

Panayiota L Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W Lederer, Thessalia Papasavva

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Panayiota L PapasavvaDepartment of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Konstantinos KaouranisPlatonas Medical Center, Apostolos Loukas Medical Center, Nicosia, Cyprus.
Stefania ByrouDepartment of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Constantina G ConstantinouDepartment of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Iacovou EfrosiniECCLabs-Independent Cytopathology Services (IHCS), Nicosia, Cyprus.
Marina KleanthousDepartment of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Carsten W LedererDepartment of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Thessalia PapasavvaDepartment of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition. With its genetic heterogeneity, variable penetrance and expressivity, DBAS poses significant diagnostic challenges, necessitating advancements in genetic testing for improved accuracy. Here, we present the case of an 18-year-old male with a long-standing macrocytic anemia that remained undiagnosed despite standard whole exome sequencing (WES). Revisiting a family-trio WES analysis with clinical insight led to the identification of a likely pathogenic variant in the Ribosomal Protein S17 (

Indexed as

bone marrow failure syndromedata analysisdiamond-blackfan anemia syndromefilteringnext generation sequencingwhole exome sequencing

Identifiers

PMID39606014
PMCPMC11600103

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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.