Evidence map›Paper›PMID 35806387›Full record

ArticleInternational journal of molecular sciences2022

Homozygosity for a Novel

Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert, Wolfgang Berger

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

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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 2 institutions in 1 country.

Fatma Kivrak PfiffnerInstitute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland.
Samuel KollerInstitute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland.ORCID 0000-0003-0965-0539
Anika MénétreyDepartment of Pediatric Neurology, University Children's Hospital, University of Zurich, 8032 Zurich, Switzerland.
Urs GrafInstitute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland.
Luzy BährInstitute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland.
Alessandro MaspoliInstitute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland.
Annette HackenbergDepartment of Pediatric Neurology, University Children's Hospital, University of Zurich, 8032 Zurich, Switzerland.ORCID 0000-0003-3161-8703
Raimund KottkeDepartment of Diagnostic Imaging, University Children's Hospital, University of Zurich, 8032 Zurich, Switzerland.ORCID 0000-0003-0166-2770
Christina Gerth-KahlertDepartment of Ophthalmology, University Hospital, 8091 Zurich, Switzerland.ORCID 0000-0001-6298-615X
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland.ORCID 0000-0002-0370-3815
University of Zurich · CHUniversity Hospital of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the genetic origin is only identified in half of the cases. We report the case of a female child initially diagnosed with Leber congenital amaurosis (LCA), an early-onset retinal dystrophy due to photoreceptor cell degeneration in the retina. The first examination at 9 months of age revealed no reaction to light or objects and showed wandering eye movements. Ophthalmological examination did not show any ocular abnormalities. The patient displayed mildly dysmorphic features and a global developmental delay. Brain MRI demonstrated pontine hypo-/dysplasia. The patient developed myoclonic epileptic seizures and epileptic spasms with focal and generalized epileptiform discharges on electroencephalogram (EEG) at the age of 16 months. Genetic screening for a potentially pathogenic DNA sequence variant by whole-exome sequencing (WES) revealed a novel, conserved, homozygous frameshift variant (c.5391delA, p.(Ala1798Leu

Indexed as

Chromosomes, Human, Pair 1Uniparental DisomyFemaleGTPase-Activating ProteinsGuanine Nucleotide Exchange FactorsHumansInfantPolymorphism, Single NucleotideSpasms, InfantileVision DisordersDOCK7 protein, humanGTPase-Activating ProteinsGuanine Nucleotide Exchange Factorscortical blindnesscortical visual impairmentearly infantile epileptic encephalopathy 23EIEE23loss of heterozygosity (LOH)mUPiDuniparental disomy (UPD)UPhDUPiD

Identifiers

PMID35806387
PMCPMC9266905
OpenAlexW4283801698

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.