Evidence map›Paper›PMID 30549403›Full record

ArticleJournal of thrombosis and haemostasis : JTH2019

Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.

N M J Zwifelhofer, R S Bercovitz, L A Weik, A Moroi, S LaRose, P J Newman, D K Newman

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

Article in Journal of thrombosis and haemostasis : JTH, 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 28% 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, 14 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Structure-function of platelet glycoprotein Ib-IX.Journal of thrombosis and haemostasis : JTH · 2020
    Review
  6. 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.

N M J ZwifelhoferBlood Research Institute, BloodCenter of Wisconsin - part of Versiti, Milwaukee, WI, USA.ORCID 0000-0001-9577-3994
R S BercovitzAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
L A WeikChildren's Hospital of Wisconsin, Milwaukee, WI, USA.
A MoroiBlood Research Institute, BloodCenter of Wisconsin - part of Versiti, Milwaukee, WI, USA.
S LaRoseBlood Research Institute, BloodCenter of Wisconsin - part of Versiti, Milwaukee, WI, USA.
P J NewmanBlood Research Institute, BloodCenter of Wisconsin - part of Versiti, Milwaukee, WI, USA.
D K NewmanBlood Research Institute, BloodCenter of Wisconsin - part of Versiti, Milwaukee, WI, USA.
Versiti Blood Center of Wisconsin · USMedical College of Wisconsin · USChildren's Hospital of Wisconsin · USNorthwestern University · US

Funding

Basic Investigation and Translational Applications Concerning the Cell and Molecular Biology of Blood and Vascular CellsR35HL139937 · NHLBI · VERSITI WISCONSIN, INC. · PI NEWMAN, PETER J · 2018 to 2024
$6.9M
RESEARCH TRAINING IN TRANSFUSION SCIENCET32HL007209 · NHLBI · VERSITI WISCONSIN, INC. · PI WHITE, II, GILBERT C. · 1985 to 2019
$2.9M
NHLBI NIH HHS R35 HL139937NHLBI NIH HHS T32 HL007209
6 · The paper itself

Abstract

Essentials How thrombocytopenia relates to bleeding in 22q11 deletion syndrome (22q11DS) is not clear. Bleeding severity, platelet count and volume, and GPIBB were examined in patients with 22q11DS. Macrothrombocytopenia and bleeding typified imperfectly overlapping subsets of 22q11DS patients. GPIBB hemizygosity does not cause macrothrombocytopenia or bleeding in patients with 22q11DS. SUMMARY: Background and objectives Macrothrombocytopenia and bleeding are frequently associated with 22q11 deletion syndrome (22q11DS). GPIBB, which encodes the glycoprotein (GP) Ibβ subunit of GPIb-IX-V, is commonly deleted in patients with 22q11DS. Absence of functional GPIb-IX-V causes Bernard-Soulier syndrome, which is a severe bleeding disorder characterized by macrothrombocytopenia. Patients with 22q11DS are often obligate hemizygotes for GPIBB, and those with only a pathogenically disrupted copy of GPIBB present with Bernard-Soulier syndrome. The objective of this study was to determine how GPIBB hemizygosity and sequence variation relate to macrothrombocytopenia and bleeding in patients with 22q11DS who do not have Bernard-Soulier syndrome. Patients/methods We thoroughly characterized bleeding severity, mean platelet volume, platelet count and GPIBB copy number and sequence in patients with 22q11DS. Results and conclusions Macrothrombocytopenia and mild bleeding were observed in incompletely overlapping subsets of patients, and GPIBB copy number and sequence variation did not correlate with either macrothrombocytopenia or bleeding in patients with 22q11DS. These findings indicate that GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in these patients. Alternative genetic causes of macrothrombocytopenia, potential causes of acquired thrombocytopenia and bleeding and ways in which platelet size, platelet count and GPIBB sequence information can be used to aid in the diagnosis and management of patients with 22q11DS are discussed.

Indexed as

Hemizygote22q11 Deletion SyndromeAdolescentBernard-Soulier SyndromeChildChild, PreschoolFemaleGene DosageGenetic Predisposition to DiseaseHemorrhageHemostasisHumansMaleMean Platelet VolumeMinisatellite RepeatsPhenotypeadhesion receptorPlatelet Glycoprotein GPIb-IX Complex22q11 deletion syndromeBernard-Soulier syndromegiant plateletsglycoprotein Ibthrombocytopenia

Identifiers

PMID30549403
PMCPMC6410711
OpenAlexW2904833842

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.