Evidence map›Paper›PMID 28670735›Full record

ArticleCongenital anomalies2018

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Bethany Stokes, Seth I Berger, Beth A Hall, Karin Weiss, Ariel F Martinez, Donald W Hadley, David R Murdock, Subhadra Ramanathan, Robin D Clark, Erich Roessler and 2 more

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

Article in Congenital anomalies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 29% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Molecular testing in holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018
    Pooled it
  2. Article
  3. Article
  4. Review
  5. Review
  6. Modeling the complex etiology of holoprosencephaly in mice.American journal of medical genetics. Part C, Seminars in medical genetics · 2018
    Review
  7. Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018
    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

12 authors at 3 institutions in 1 country.

Bethany StokesMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Seth I BergerMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Beth A HallMinnesota Perinatal Physicians, Allina Health, Minneapolis, Minnesota, USA.
Karin WeissMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Ariel F MartinezMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Donald W HadleyMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
David R MurdockOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Subhadra RamanathanDivision of Medical Genetics, Department of Pediatrics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
Robin D ClarkDivision of Medical Genetics, Department of Pediatrics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
Erich RoesslerMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Paul KruszkaMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID http://orcid.org/0000-0003-4949-0875
Maximilian MuenkeMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
National Institutes of Health · USLoma Linda University Children's Hospital · USAllina Health · US

Funding

Genetics of Brain DevelopmentZIAHG000209 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KRUSZKA, PAUL · 2009 to 2020
$18.2M
Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions, which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluate families with inherited HPE. Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a SIX3 hypomorph, and clinically significant variants in genes that are known to interact with SIX3 as causes of incomplete penetrance. We demonstrate the importance of molecular cascade testing in families with HPE and we answer important questions about incomplete penetrance.

Indexed as

Gene DeletionAdultChild, PreschoolExome SequencingEye ProteinsGene ExpressionHoloprosencephalyHomeobox Protein SIX3Homeodomain ProteinsHumansInfantInfant, NewbornMicroarray AnalysisNerve Tissue ProteinsPenetranceProsencephalonEye ProteinsHomeobox Protein SIX3Homeodomain ProteinsNerve Tissue Proteinsholoprosencephalyincomplete penetranceSIX3 deletion

Identifiers

PMID28670735
PMCPMC5750110
OpenAlexW2733750034

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.