Evidence map›Paper›PMID 34712575›Full record

ReviewMolecular genetics and metabolism reports2021

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier and 27 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. De NovoInternational journal of molecular sciences · 2025
    Review
  3. 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

37 authors.

Julian DelanneINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Ange-Line BruelINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Frédéric HuetCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Sébastien MouttonINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Sophie NambotINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Margot GrisvalCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Nada HoucinatCHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Paul KuentzINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Arthur SorlinINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Patrick CallierINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Nolwenn Jean-MarcaisCHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Anne-Laure Mosca-BoidronLaboratoire de cytogénétique et génétique moléculaire, CHU Dijon Bourgogne, France.
Frédéric Tran Mau-ThemINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Anne-Sophie Denommé-PichonINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Antonio VitobelloINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Daphné LehalleCHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Salima El ChehadehCHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Christine FrancannetService de Génétique Médicale, Centre de Référence Déficiences Intellectuelles de causes rares, CHU Clermont Ferrand, France.
Marine LebrunLaboratoire de génétique, CHU de Saint-Etienne, Saint-Etienne, France.
Laetitia LambertService de Génétique Clinique, CHRU Nancy, France.
Marie-Line JacquemontUnité de Génétique Médicale, Pole Femme-Mère-Enfant, Groupe Hospitalier Sud Réunion, CHU de La Réunion, La Réunion, France.
Marion Gerard-BlanluetAPHP, Department of Genetics, Robert Debré Hospital, Paris, France.
Jean-Luc AlessandriService de Réanimation Néonatale, Pole Femme-Mère-Enfant, CH Felix Guyon, CHU de La Réunion, Saint-Denis, La Réunion, France.
Marjolaine WillemsDepartment of Medical Genetics, Reference Center for Rare Diseases, Developmental Disorders and Multiple Congenital Anomalies, Arnaud de Villeneuve Hospital, Montpellier, France.
Julien ThevenonINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Mondher ChouchaneCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Véronique DarmencyCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Clémence Fatus-FauconnierCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Sébastien GayService de Pédiatrie, CH William Morey, Chalon-Sur-Saône, France.
Marie BournezCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Alice MasurelCHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Vanessa LeguyCentre de Compétence Maladies Héréditaires du Métabolisme, CHU Dijon Bourgogne, France.
Yannis DuffourdINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Christophe PhilippeINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
François FeilletDepartment of Medical Genetics, Reference Center for Rare Diseases, Developmental Disorders and Multiple Congenital Anomalies, Arnaud de Villeneuve Hospital, Montpellier, France.
Laurence FaivreINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.
Christel Thauvin-RobinetINSERM - University of Bourgogne Franche-Comté, UMR 1231 GAD Team, Genetics of Developmental Disorders, FHU TRANSLAD, CHU Dijon Bourgogne, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable. SYNOPSIS: Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.

Indexed as

Developmental delayExome sequencingGenotype firstInherited metabolic disordersIntellectual disability

Identifiers

PMID34712575
PMCPMC8528787

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.