Evidence map›Paper›PMID 30976099›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, Dejan Dukic, Elena Gardella, Agnieszka Charzewska, Emma Clement, Helle Hjalgrim, Dorota Hoffman-Zacharska, Denise Horn and 18 more

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  12. EEG Monitoring of the Epileptic Newborn.Current neurology and neuroscience reports · 2020
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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

28 authors.

Allan BayatDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark. allan.bayat@regionh.dk.
Alexej KnausInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
Annika Wollenberg JuulDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark.
Dejan DukicInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
Elena GardellaDanish Epilepsy Centre, Dianalund, Denmark.
Agnieszka CharzewskaInstitute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
Emma ClementNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
Helle HjalgrimDanish Epilepsy Centre, Dianalund, Denmark.
Dorota Hoffman-ZacharskaInstitute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
Denise HornInstitute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Rachel HortonWessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton, UK.
Jane A HurstNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
Dragana JosifovaGuy's and St. Thomas NHS Trust, Clinical Genetics Department, Great Maze Pond, London, UK.
Line H G LarsenAmplexa Genetics, Odense, Denmark.
Karine LascellesDepartment of Neuroscience, Evelina London Children's Hospital, St Thomas' Hospital, London, UK.
Ewa ObersztynInstitute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
Alistair PagnamentaNational Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Deb K PalDepartment of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Manuela PendziwiatDepartment of Neuropediatrics University Medical Center Schleswig-Holstein Christian Albrechts University Kiel, Kiel, Germany.
Mina RytenGuy's and St. Thomas NHS Trust, Clinical Genetics Department, Great Maze Pond, London, UK.
Jenny TaylorNational Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Julie VogtClinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK.
Yvonne WeberDepartment of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Peter M KrawitzDanish Epilepsy Centre, Dianalund, Denmark.
Ingo HelbigDepartment of Neuropediatrics University Medical Center Schleswig-Holstein Christian Albrechts University Kiel, Kiel, Germany.
Usha KiniOxford Centre for Genomic Medicine Oxford University Hospitals NHS Trust, Oxford, UK.
Rikke S MøllerDanish Epilepsy Centre, Dianalund, Denmark. rimo@filadelfia.dk.
DDD Study Group

Funding

Department of HealthMedical Research Council MR/N008324/1Wellcome Trust WT098051
6 · The paper itself

Abstract

purposeTo provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies.

methodsWe evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT.

resultsAll patients had hypotonia, severe developmental delay, and epilepsy. Epilepsy onset ranged from first day of life to two years of age. Severity of the seizure disorder varied from treatable seizures to severe neonatal onset epileptic encephalopathies. The facial gestalt of patients resembled that of previously published PIGT patients as they were closest to the center of the PIGT cluster in the clinical face phenotype space and were distinguishable from other gene-specific phenotypes.

conclusionWe expand our knowledge of PIGT. Our cases reaffirm that the use of genetic testing is essential for diagnosis in this group of disorders. Finally, we show that computer-assisted facial gestalt analysis accurately assigned PIGT cases to the multiple congenital anomalies-hypotonia-seizures syndrome phenotypic series advocating the additional use of next-generation phenotyping technology.

Indexed as

Abnormalities, MultipleAcyltransferasesChildChild, PreschoolDevelopmental DisabilitiesEpilepsyFemaleGenetic Association StudiesGenotypeGlycosylphosphatidylinositolsHomozygoteHumansInfantInfant, NewbornMaleMutationAcyltransferasesCOOH-terminal signal transamidaseGlycosylphosphatidylinositolscomputer-assisted facial gestalt analysiscongenital disorder of glycosylationepilepsygenotype–phenotypePIGT-CDG

Identifiers

PMID30976099

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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.