Evidence map›Paper›PMID 32499600›Full record

ArticleEuropean journal of human genetics : EJHG2020

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

Karen W Gripp, Laura Baker, Katherine M Robbins, Deborah L Stabley, Gary A Bellus, Verena Kolbe, Theresa Nauth, Georg Rosenberger

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

Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 36% 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

3 citing papers in PubMed, 10 citations in OpenAlex.

  1. Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.European journal of human genetics : EJHG · 2026
    Article
  2. Article
  3. Review
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 4 institutions in 2 countries.

Karen W GrippDivision of Medical Genetics, A. I. duPont Hospital for Children/Nemours, Wilmington, DE, USA. kgripp@nemours.org.ORCID http://orcid.org/0000-0001-8200-1733
Laura BakerDivision of Medical Genetics, A. I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Katherine M RobbinsDepartment of Biomedical Research, A. I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Deborah L StableyDepartment of Biomedical Research, A. I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.ORCID http://orcid.org/0000-0002-4936-0854
Gary A BellusClinical Genetics & Genomic Medicine, Geisinger Health System, Danville, PA, USA.
Verena KolbeInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Theresa NauthInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Georg RosenbergerInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Community Health Systems - Dupont Hospital · USUniversität Hamburg · DEAlfred I. duPont Hospital for Children · USGeisinger Health System · US

Funding

Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research) 01GM1902E
6 · The paper itself

Abstract

Specific activating missense HRAS variants cause Costello syndrome (CS), a RASopathy with recognizable facial features. The majority of these dominant disease causing variants affect the glycine residues in position 12 or 13. A clinically suspected CS diagnosis can be confirmed through identification of a dominant pathogenic HRAS variant. A novel HRAS variant predicting p.(Glu62_Arg68dup) was identified in an individual with hypertrophic cardiomyopathy, Chiari 1 malformation and ectodermal findings consistent with a RASopathy. Functional studies showed that the p.Glu62_Arg68dup alteration affects HRAS interaction with effector protein PIK3CA (catalytic subunit of phosphoinositide 3-kinase) and the regulator neurofibromin 1 (NF1) GTPase-activating protein (GAP). HRAS

Indexed as

Gene DuplicationChild, PreschoolClass I Phosphatidylinositol 3-KinasesCostello SyndromeHEK293 CellsHumansMaleMAP Kinase Signaling SystemNeurofibromin 1PhenotypeProtein BindingProto-Oncogene Proteins p21(ras)Class I Phosphatidylinositol 3-KinasesHRAS protein, humanNeurofibromin 1NF1 protein, humanPIK3CA protein, humanProto-Oncogene Proteins p21(ras)

Identifiers

PMID32499600
PMCPMC7576819
OpenAlexW3033717390

What OpenQuestion holds

Textmetadata
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.