Evidence map›Paper›PMID 28626029›Full record

ArticleJournal of medical genetics2018

A homozygous founder mutation in

Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing 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

30 citing papers in PubMed, 48 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.International journal of molecular sciences · 2022
    Article
  12. Article
  13. Review
  14. A novel homozygous variant inJournal of medical genetics · 2021
    Article
  15. Article
  16. Review
  17. Membrane trafficking in health and disease.Disease models & mechanisms · 2020
    Review
  18. Review
  19. Imaging epilepsy in larval zebrafish.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2020
    Review
  20. 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

15 authors at 4 institutions in 3 countries.

Isaac Marin-ValenciaLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Gaia NovarinoLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Anide JohansenLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
Basak RostiLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Mahmoud Y IssaDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Damir MusaevLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
Gifty BhatLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Eric ScottLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
Jennifer L SilhavyLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
Valentina StanleyLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
Rasim O RostiLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Jeremy W GleesonLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
Farhad B ImamDepartment of Pediatrics, University of California, San Diego, California, USA.
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Joseph G GleesonLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Children’s Institute · USHoward Hughes Medical Institute · USNational Research Centre · EGUniversity of California San Diego · US

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0M
U of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0M
Project 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7M
Molecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0M
Jouberin and Nephrocystin in Joubert SyndromeR01NS052455 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2007 to 2015
$3.0M
The UCSD Digestive Diseases Research Development CenterR24DK080506 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ECKMANN, LARS · 2008 to 2012
$2.7M
Mechanistic Insights into Hypoxic Preconditioning using Genetic and Genomic Approaches in ZebrafishK08HL134579 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IMAM, FARHAD BRYAN · 2016 to 2018
$527k
NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG008900NHLBI NIH HHS K08 HL134579NICHD NIH HHS P01 HD070494NIDDK NIH HHS R24 DK080506NINDS NIH HHS P30 NS047101NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS052455
6 · The paper itself

Abstract

backgroundTransport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subunits in human disease, however, has not been fully established, and their functions remain uncertain.

objectiveWe aimed to expand the range of neurodevelopmental disorders associated with mutations in TRAPP subunits by exome sequencing of consanguineous families.

methodsLinkage and homozygosity mapping and candidate gene analysis were used to identify homozygous mutations in families. Patient fibroblasts were used to study splicing defect and zebrafish to model the disease.

resultsWe identified six individuals from three unrelated families with a founder homozygous splice mutation in

conclusionThis study provides clinical and functional evidence of the role of

Indexed as

Founder EffectGenetic Association StudiesAnimalsAutistic DisorderEpilepsyHomozygoteHumansMicrocephalyMutationNeurodevelopmental DisordersPhenotypeVesicular Transport ProteinsZebrafishTRAPPC6B protein, humanVesicular Transport Proteinsautismepilepsyintellectual disabilitymicrocephalyTRAPPC6BTRAPP complex

Identifiers

PMID28626029
PMCPMC6056005
OpenAlexW2627013014

What OpenQuestion holds

Textmetadata
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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.