Evidence map›Paper›PMID 24362817›Full record

ArticleNature genetics2014

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej B Poplawski, Alicia R Gomes, Piotr Madanecki, Chuanhua Fu, Michael R Crowley, David K Crossman, Linlea Armstrong and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
151citing papers in PubMed, 2 pooled it
13.5field-weighted citation impact, top 1% 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

151 citing papers in PubMed, 2 syntheses or guidelines pooled it, 319 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026
    Article
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  10. Review
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  18. Gallbladder Schwannoma: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2025
    Article
  19. Review
  20. Article

91 more citing papers are in PubMed but not listed here.

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

28 authors at 14 institutions in 3 countries.

Arkadiusz Piotrowski1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2] Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland. [3].
Jing Xie1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2].
Ying F LiuMedical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Andrzej B PoplawskiMedical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Alicia R GomesMedical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Piotr MadaneckiFaculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland.
Chuanhua FuMedical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Michael R CrowleyHeflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA.
David K CrossmanHeflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Linlea ArmstrongDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Dusica Babovic-VuksanovicDepartment of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Amanda BergnerJohns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA.
Jaishri O BlakeleyJohns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA.
Andrea L BlumenthalLakeridge Health Corporation, Oshawa, Ontario, Canada.
Molly S DanielsClinical Cancer Genetics Program, MD Anderson Cancer Center, University of Texas, Houston, Texas, USA.
Howard FeitDepartment of Neurology, Henry Ford Hospital, Detroit, Michigan, USA.
Kathy GardnerDepartment of Neurology, Veterans Administration Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Stephanie HurstLakeridge Health Corporation, Oshawa, Ontario, Canada.
Christine KobelkaKaiser Permanente Genetics Northern California, San Francisco, California, USA.
Chung LeeDepartment of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.
Rebecca NagyDepartment of Internal Medicine, Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Katherine A RauenDepartment of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.
John M SlopisDepartment of Neuro-Oncology, MD Anderson Cancer Center, University of Texas, Houston, Texas, USA.
Pim SuwannaratKaiser Permanente Genetics Northern California, San Francisco, California, USA.
Judith A WestmanDepartment of Internal Medicine, Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Andrea ZankoDepartment of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.
Bruce R Korf1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2] Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Ludwine M MessiaenMedical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
University of Alabama at Birmingham · USUniversity of California, San Francisco · USJohns Hopkins University · USKaiser Permanente · USLakeridge Health · CACancer Genetics (United States) · USGdańsk Medical University · PLHenry Ford Hospital · USMayo Clinic · USThe Ohio State University · USThe Ohio State University Wexner Medical Center · USThe University of Texas MD Anderson Cancer Center · USUniversity of British Columbia · CAUniversity of Pittsburgh · US

Funding

Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6M
The Role of Germline Mutations of the Ras/MAPK Pathway on Skeletal MyogenesisR01AR062165 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RAUEN, KATHERINE ANNA · 2012 to 2017
$2.1M
NCI NIH HHS P30 CA006973NIAMS NIH HHS R01 AR062165
6 · The paper itself

Abstract

Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and <10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of the other NF2 allele in every schwannoma but no mutation of the remaining SMARCB1 allele in blood and tumor samples. LZTR1 germline mutations were identified in seven of the eight cases. LZTR1 sequencing in 12 further cases with the same molecular signature identified 9 additional germline mutations. Loss of heterozygosity with retention of an LZTR1 mutation was present in all 25 schwannomas studied. Mutations segregated with disease in all available affected first-degree relatives, although four asymptomatic parents also carried an LZTR1 mutation. Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1.

Indexed as

Models, MolecularProtein ConformationBase SequenceChromosomal Proteins, Non-HistoneChromosomes, Human, Pair 22DNA-Binding ProteinsDNA, ComplementaryGene ComponentsGenes, DominantGenetic Predisposition to DiseaseGerm-Line MutationHumansLoss of HeterozygosityMicrosatellite RepeatsMolecular Sequence DataNeurilemmomaChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDNA, ComplementaryLZTR1 protein, humanSMARCB1 ProteinSMARCB1 protein, humanTranscription Factors

Identifiers

PMID24362817
PMCPMC4352302
OpenAlexW1987311809

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.