Evidence map›Paper›PMID 30420707›Full record

ArticlePediatric research2019

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.

Sandrine Vuillaumier-Barrot, Manuel Schiff, Francesca Mattioli, Elise Schaefer, Audrey Dupont, Julia Dancourt, Thierry Dupré, Alain Couvineau, Hélène Ogier de Baulny, Pascale de Lonlay and 3 more

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In one paragraph

Article in Pediatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Article
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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

13 authors.

Sandrine Vuillaumier-BarrotAP-HP, Hôpital Bichat, Biochimie, Paris, France. Sandrine.vuillaumier@aphp.fr.
Manuel SchiffAPHP, Robert Debré Hospital, Reference Center for Inborn Errors of Metabolism, UMR1141, PROTECT, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
Francesca MattioliInstitut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR 7104, Université de Strasbourg, 67400, Illkirch-Graffenstaden, France.
Elise SchaeferService de Génétique Médicale, CHU de Hautepierre, avenue Molière, Institut de Génétique Médicale d'Alsace, 67098, Strasbourg, France.
Audrey DupontIntensive Care Unit, CHU Lenval, 57 avenue de la Californie, 06200, Nice, France.
Julia DancourtINSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
Thierry DupréAP-HP, Hôpital Bichat, Biochimie, Paris, France.
Alain CouvineauINSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
Hélène Ogier de BaulnyAPHP, Robert Debré Hospital, Reference Center for Inborn Errors of Metabolism, UMR1141, PROTECT, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
Pascale de LonlayAP-HP, Necker-Enfants Malades Hospital, Reference Center for Inborn Errors of Metabolism, metabERN, G2M, IMAGINE Institute, University Paris Descartes-Sorbonne Paris Cité, Paris, France.
Nathalie SetaAP-HP, Hôpital Bichat, Biochimie, Paris, France.
Stuart MooreINSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
Isabelle ChantretINSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If most of the 15 previously reported patients present an early-onset multisystem severe disease and early death, three patients including the cas princeps, present long-term survival and less severe symptoms.

methodsIn order to further characterize ALG8-CDG, two new ALG8 patients are described and mRNA analyses of the ALG8-CDG cas princeps were effected.

resultsOne new patient exhibited a hepato-intestinal and neurological phenotype with two novel variants (c.91A > C p.Thr31Pro; c.139dup p.Thr47Asnfs*12). The other new patient, homozygous for a known variant (c.845C > T p.Ala282Val), presented a neurological phenotype with epilepsy, intellectual disability and retinis pigmentosa. The cas princeps ALG8-CDG patient was reported to have two heterozygous frameshift variants predicted to be without activity. We now described a novel ALG8 transcript variant in this patient and the 3D model of the putative encoded protein reveals no major difference with that of the normal ALG8 protein.

conclusionThe description of the two new ALG8 patients affirms that ALG8-CDG is a severe disease. In the cas princeps, as the originally described frameshift variants are degraded, the novel variant is promoted and could explain a milder phenotype.

Indexed as

Alternative SplicingCongenital Disorders of GlycosylationEmetineExonsFemaleFrameshift MutationFranceGenetic VariationGlucosyltransferasesGlycosylationHeterozygoteHomozygoteHumansInfantMaleMutation, MissenseALG8 protein, humanEmetineGlucosyltransferases

Identifiers

PMID30420707

What OpenQuestion holds

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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.