Evidence map›Paper›PMID 34573383›Full record

ArticleGenes2021

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted

Erzsebet Kovesdi, Reka Ripszam, Etelka Postyeni, Emese Beatrix Horvath, Anna Kelemen, Beata Fabos, Viktor Farkas, Kinga Hadzsiev, Katalin Sumegi, Lili Magyari and 3 more

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

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 26% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Neuronal KActa pharmacologica Sinica · 2024
    Review
  4. Article
  5. Article
  6. 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 at 6 institutions in 2 countries.

Erzsebet KovesdiDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
Reka RipszamDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
Etelka PostyeniDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
Emese Beatrix HorvathDepartment of Medical Genetics, Faculty of Medicine, University of Szeged, 6720 Szeged, Hungary.
Anna KelemenNational Institute of Clinical Neurosciences, 1145 Budapest, Hungary.
Beata FabosSomogy County Mor Kaposi Teaching Hospital, 7400 Kaposvar, Hungary.
Viktor FarkasDepartment of Pediatrics, Faculty of Medicine, Semmelweis University, 1085-Budapest, Hungary.
Kinga HadzsievDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
Katalin SumegiDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
Lili MagyariDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
Pilar Guatibonza MorenoCENTOGENE GmbH, 18055 Rostock, Germany.
Peter BauerCENTOGENE GmbH, 18055 Rostock, Germany.
Bela MeleghDepartment of Medical Genetics, Medical School, Szentagothai Research Center, University of Pecs, 7624 Pecs, Hungary.
University of Pecs · HUCentogene (Germany) · DEOrszágos Idegsebészeti Tudományos Intézet · HUSemmelweis University · HUSomogy Megyei Kaposi Mór Oktató Kórház · HUUniversity of Szeged · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundApproximately fifteen percent of patients with tuberous sclerosis complex (TSC) phenotype do not have any genetic disease-causing mutations which could be responsible for the development of TSC. The lack of a proper diagnosis significantly affects the quality of life for these patients and their families.

methodsThe aim of our study was to use Whole Exome Sequencing (WES) in order to identify the genes responsible for the phenotype of nine patients with clinical signs of TSC, but without confirmed tuberous sclerosis complex 1/ tuberous sclerosis complex 2 (

resultsWe found previously overlooked heterozygous nonsense mutations in

conclusionPatients without appropriate diagnosis due to the lack of sensitivity of the currently used routine diagnostic methods can significantly profit from the wider application of next generation sequencing technologies in order to identify genes and variants responsible for their symptoms.

Indexed as

Exome SequencingAdolescentAdultChildCodon, NonsenseCohort StudiesDNA Mutational AnalysisFemaleGenetic TestingHeterozygoteHumansHungaryMaleTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinCodon, NonsenseTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 Proteinno mutation identifiedtuberous sclerosis complexWhole Exome Sequencing

Identifiers

PMID34573383
PMCPMC8471884
OpenAlexW3199982439

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.