Evidence map›Paper›PMID 33368972›Full record

ArticleAmerican journal of medical genetics. Part A2021

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

April N Meyer, Peggy Modaff, Clark G Wang, Elizabeth Wohler, Nara L Sobreira, Daniel J Donoghue, Richard M Pauli

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

Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 2 pooled it
0.3field-weighted citation impact, top 45% 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, 2 syntheses or guidelines pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. 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

7 authors at 4 institutions in 1 country.

April N MeyerDepartment of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, USA.
Peggy ModaffDepartment of Pediatrics, University of Wisconsin, Madison, Wisconsin, USA.
Clark G WangDepartment of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, USA.
Elizabeth WohlerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Nara L SobreiraMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Daniel J DonoghueDepartment of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, USA.
Richard M PauliDepartment of Pediatrics, University of Wisconsin, Madison, Wisconsin, USA.ORCID 0000-0003-3471-5154
Johns Hopkins University · USUniversity of California San Diego · USUniversity of Wisconsin System · USNational Foundation for Cancer Research · US

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI S. Ali Fatemi, Bradley L Schlaggar · 2020 to 2026
$9.9M
NHGRI NIH HHS UM1 HG006542NICHD NIH HHS P50 HD103538
6 · The paper itself

Abstract

We describe an individual in whom clinical and radiographic features are typical for achondroplasia, but in whom the common variants of FGFR3 that result in achondroplasia are absent. Whole exome sequencing demonstrated a novel, de novo 6 base pair tandem duplication in FGFR3 that results in the insertion of Ser-Phe after position Leu324. in vitro studies showed that this variant results in aberrant dimerization, excessive spontaneous phosphorylation of FGFR3 dimers and excessive, ligand-independent tyrosine kinase activity. Together, these data suggest that this variant leads to constitutive disulfide bond-mediated dimerization, and that this, surprisingly, occurs to an extent similar to the neonatal lethal thanatophoric dysplasia type I Ser249Cys variant.

Indexed as

MutationAchondroplasiaAdolescentAdultFemaleHumansMalePhosphorylationPrognosisReceptor, Fibroblast Growth Factor, Type 3Signal TransductionFGFR3 protein, humanReceptor, Fibroblast Growth Factor, Type 3achondroplasiafibroblast growth factor receptor 3in vitro functional studies

Identifiers

PMID33368972
PMCPMC8083996
OpenAlexW3114080158

What OpenQuestion holds

Textmetadata
LicenceTDM
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.