Evidence map›Paper›PMID 34200226›Full record

ReviewGenes2021

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous

Karlijn Pellikaan, Geeske M van Woerden, Lotte Kleinendorst, Anna G W Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J C M van Zutven, Elisabeth F C van Rossum, Aart J van der Lely, James L Resnick and 3 more

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

Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
5.5field-weighted citation impact, top 4% 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

4 citing papers in PubMed, 33 citations in OpenAlex.

  1. Article
  2. An Atypical 15q11.2 Microdeletion Not InvolvingCase reports in genetics · 2023
    Article
  3. Article
  4. 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 3 countries.

Karlijn PellikaanDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0002-0738-0275
Geeske M van WoerdenDepartment of Neuroscience, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
Lotte KleinendorstDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1081 HV Amsterdam, The Netherlands.
Anna G W RosenbergDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands.
Bernhard HorsthemkeInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany.
Christian GrosserInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany.
Laura J C M van ZutvenDepartment of Clinical Genetics, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
Elisabeth F C van RossumDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands.
Aart J van der LelyDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0002-1059-0126
James L ResnickDepartment of Molecular Genetics and Microbiology, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
Hennie T BrüggenwirthDepartment of Clinical Genetics, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
Mieke M van HaelstDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1081 HV Amsterdam, The Netherlands.
Laura C G de GraaffDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands.
Erasmus MC · NLAmsterdam University Medical Centers · NLErasmus University Rotterdam · NLPraxis für Humangenetik Tübingen · DEUniversity of Duisburg-Essen · DEUniversity of Florida · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prader-Willi syndrome (PWS) is a rare genetic condition characterized by hypotonia, intellectual disability, and hypothalamic dysfunction, causing pituitary hormone deficiencies and hyperphagia, ultimately leading to obesity. PWS is most often caused by the loss of expression of a cluster of genes on chromosome 15q11.2-13. Patients with Prader-Willi-like syndrome (PWLS) display features of the PWS phenotype without a classical PWS genetic defect. We describe a 46-year-old patient with PWLS, including hypotonia, intellectual disability, hyperphagia, and pituitary hormone deficiencies. Routine genetic tests for PWS were normal, but a homozygous missense variant NM_003097.3(

Indexed as

Cells, CulturedFemaleGenomic ImprintingHEK293 CellsHomozygoteHumansMiddle AgedMutation, MissenseNuclear ProteinsPhenotypePrader-Willi SyndromesnRNP Core ProteinsNuclear ProteinssnRNP Core ProteinsSNRPN protein, humanSNURF protein, humanbraingeneticsgenetic variationgenomic imprintingprader–willi syndrome

Identifiers

PMID34200226
PMCPMC8227738
OpenAlexW3168633739

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.