Evidence map›Paper›PMID 31033088›Full record

ArticleHuman mutation2019

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Lusine Nazaryan-Petersen, Inês R Oliveira, Mana M Mehrjouy, Juan M M Mendez, Mads Bak, Merete Bugge, Vera M Kalscheuer, Iben Bache, Dustin C Hancks, Niels Tommerup

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

Article in Human mutation, 2019. 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
0.7field-weighted citation impact, top 37% 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, 9 citations in OpenAlex.

  1. Article
  2. Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
  3. Article
  4. Article
  5. Chromothripsis and DNA Repair Disorders.Journal of clinical medicine · 2020
    Review
  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

10 authors at 3 institutions in 5 countries.

Lusine Nazaryan-PetersenWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0002-4807-6827
Inês R OliveiraWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Mana M MehrjouyWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Juan M M MendezWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Mads BakWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Merete BuggeWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Vera M KalscheuerResearch Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0001-6898-3259
Iben BacheWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Dustin C HancksDepartment of Immunology, The University of Texas Southwestern Medical Center, Dallas, Texas.
Niels TommerupWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
University of Copenhagen · DKMax Planck Institute for Molecular Genetics · DESouthwestern Medical Center · US

Funding

Evolution-guided Studies of Host-virus InterfacesR00GM119126 · NIGMS · UT SOUTHWESTERN MEDICAL CENTER · PI HANCKS, DUSTIN · 2018 to 2020
$747k
Cancer Prevention Research Institute of Texas (CPRIT) Recruitment AwardDanish Council for Independent ResearchDet Frie Forskningsråd 4183-00482BLundbeckfonden 2013-14290NIGMS NIH HHS R00 GM119126NIH K99/R00 Pathway to Independence Award (NIGMS)University of Copenhagen Excellence Programme for Interdisciplinary Research (Global Genes, Local Concerns)
6 · The paper itself

Abstract

Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped the breakpoints of a complex chromosomal rearrangement (CCR) 46,XY,t(7;8;11;13) in a patient with MBS, which revealed 41 clustered breakpoints with typical hallmarks of chromothripsis. Among 12 truncated protein-coding genes, SEMA3A is known to bind to the MBS-associated PLXND1. Intriguingly, the CCR also truncated PIK3CG, which in silico interacts with REVL3 encoded by the other known MBS-gene REV3L, and with the SEMA3A/PLXND1 complex via FLT1. Additional studies of other complex rearrangements may reveal whether the multiple breakpoints in germline chromothripsis may predispose to complex multigenic disorders.

Indexed as

ChromothripsisGerm-Line MutationChromosome BreakpointsFatal OutcomeGene RearrangementHigh-Throughput Nucleotide SequencingHumansIntracellular Signaling Peptides and ProteinsMaleMembrane GlycoproteinsMiddle AgedMobius SyndromeSemaphorin-3ASemaphorinsIntracellular Signaling Peptides and ProteinsMembrane GlycoproteinsPLXND1 protein, humanSEMA3A protein, humanSemaphorin-3ASemaphorinschromothripsisMoebius syndromePIK3CGSEMA3ASEMA3D

Identifiers

PMID31033088
PMCPMC6688968
OpenAlexW2942852347

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.