Evidence map›Paper›PMID 32907597›Full record

ArticleOrphanet journal of rare diseases2020

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr and 4 more

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

Article in Orphanet journal of rare diseases, 2020. 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
0.3field-weighted citation impact, top 46% 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, 5 citations in OpenAlex.

  1. Article
  2. 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

14 authors at 4 institutions in 2 countries.

Luisa PaulDepartment of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0002-6058-3274
Katrin RupprichDepartment of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Adela Della MarinaDepartment of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Anja SteinDepartment of General Pediatrics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Magdeldin ElgizouliInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Bernd SchweigerDepartment of Radiology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Angela KöningerDepartment of Obestetrics and Gynaecology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Antonella IannacconeDepartment of Obestetrics and Gynaecology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Ute HehrCenter for Human Genetics, Regensburg, Germany / Department of Human Genetics, University of Regensburg, Regensburg, Germany.
Heike KölbelDepartment of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Andreas RoosDepartment of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Ulrike Schara-SchmidtDepartment of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. alma.kuechler@uk-essen.de.
University of Duisburg-Essen · DEEssen University Hospital · DEUniversity of Ottawa · CAUniversity of Regensburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWalker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of alpha-dystroglycanopathies. POMK encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex and is crucial for extracellular matrix composition.

resultsHere, we report on male monozygotic twins with severe CNS malformations (hydrocephalus, cortical malformation, hypoplastic cerebellum, and most prominently occipital meningocele), eye malformations and highly elevated creatine kinase, indicating the clinical diagnosis of a congenital muscular dystrophy (alpha-dystroglycanopathy). Both twins were found to harbor a homozygous nonsense mutation c.640C>T, p.214* in POMK, confirming the clinical diagnosis and supporting the concept that POMK mutations can be causative of WWS.

conclusionOur combined data suggest a more important role for POMK in the pathogenesis of meningoencephalocele. Only eight different pathogenic POMK variants have been published so far, detected in eight families; only five showed the severe WWS phenotype, suggesting that POMK-associated WWS is an extremely rare disease. We expand the phenotypic and mutational spectrum of POMK-associated WWS and provide evidence of the broad phenotypic variability of POMK-associated disease.

Indexed as

MeningoceleMuscular DystrophiesNervous System MalformationsWalker-Warburg SyndromeHomozygoteHumansMaleMutationProtein KinasesTwins, MonozygoticPOMK protein, humanProtein KinasesAlpha-dystroglycanopathyCongenital muscular dystrophyMeningoencephalocelePOMKProtein O-mannose kinaseWalker-Warburg syndrome

Identifiers

PMID32907597
PMCPMC7488248
OpenAlexW3084315367

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Registered trials

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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.