Evidence map›Paper›PMID 27022329›Full record

ArticleMolecular syndromology2016

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

Laurianne Le Gloan, Quentin Hauet, Albert David, Nadine Hanna, Chloé Arfeuille, Pauline Arnaud, Catherine Boileau, Bénédicte Romefort, Nadir Benbrik, Véronique Gournay and 3 more

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

Article in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Spontaneous pneumothorax or no pneumothorax at all?Breathe (Sheffield, England) · 2023
    Article
  5. A novel large in-frameCold Spring Harbor molecular case studies · 2022
    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

13 authors at 6 institutions in 1 country.

Laurianne Le GloanCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
Quentin HauetCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
Albert DavidGénétique Médicale, CHU de Nantes, Université de Nantes, Nantes, France.
Nadine HannaDépartement de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
Chloé ArfeuilleDépartement de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
Pauline ArnaudDépartement de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
Catherine BoileauDépartement de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
Bénédicte RomefortCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
Nadir BenbrikCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
Véronique GournayCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
Nicolas JoramRéanimation Pédiatrique, CHU de Nantes, Université de Nantes, Nantes, France.
Olivier BaronCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
Bertrand IsidorGénétique Médicale, CHU de Nantes, Université de Nantes, Nantes, France.
Société Française de Cardiologie · FRGénétique Médicale & Génomique Fonctionelle · FRInserm · FRAssistance Publique – Hôpitaux de Paris · FRDélégation Paris 7 · FRNantes Université · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.

Indexed as

FBN1FibrillinMarfan syndromeNeonatal Marfan syndrome

Identifiers

PMID27022329
PMCPMC4802997
OpenAlexW2266952470

What OpenQuestion holds

Textmetadata
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.