Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Humans Hedgehog Proteins / genetics Ellis-Van Creveld Syndrome / genetics DNA Copy Number Variations / genetics Phenotype Polydactyly
Bone Diseases, Endocrine Diagnosis Human Genetics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
04 2023
Historique:
received: 20 01 2022
accepted: 09 07 2022
pubmed: 5 8 2022
medline: 23 3 2023
entrez: 4 8 2022
Statut: ppublish

Résumé

Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The The aim of this study was the analysis of 50 clinically identified EVC cases from 45 families to further define the phenotype and molecular bases of EVC. Our detection rate in the cohort of 45 families was of 91.11%, with variants identified in We confirmed that

Sections du résumé

BACKGROUND
Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The
METHODS
The aim of this study was the analysis of 50 clinically identified EVC cases from 45 families to further define the phenotype and molecular bases of EVC.
RESULTS
Our detection rate in the cohort of 45 families was of 91.11%, with variants identified in
CONCLUSION
We confirmed that

Identifiants

DOI: 10.1136/jmg-2022-108435 PMID: 35927022
pubmed: 35927022
pii: jmg-2022-108435
doi: 10.1136/jmg-2022-108435
doi:

Substances chimiques

Hedgehog Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

337-345

Investigateurs

Yves Alembik (Y)
Marie-Pierre Alex-Cordier (MP)
Jacqueline Aziza (J)
Yline Capri (Y)
Laurence Caeymaen (L)
Dominique Carles (D)
Françoise Devillard (F)
Koenraad Devriendt (K)
Anne Dieux (A)
Charlotte Dubucs (C)
Salima El Chehadeh (SE)
Laurence Faivre (L)
Christine Francannet (C)
Dominique Gaillard (D)
Marion Gérard (M)
Emmanuelle Ginglinger (E)
Marie Gonzales (M)
Bertrand Isidor (B)
Florence Jobic (F)
Sophie Julia (S)
Valerie Layet (V)
Laetitia Lambert (L)
Sylvie Manouvrier (S)
Dominique Martin-Coignard (D)
Michèle Mathieu (M)
Andre Megarbané (A)
Judith Melki (J)
Geert Mortier (G)
Clotilde Ormieres (C)
Fanny Pelluard (F)
Audrey Putoux (A)
Chloé Quélin (C)
Sabine Sigaudy (S)
Luigina Spaccini (L)
Alain Verloes (A)
Khaloua Zaafrane (K)

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Marion Aubert-Mucca (M)

Centre de Référence des Maladies Osseuses Constitutionnelles, Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
ORCID: 0000-0002-8638-2630

Céline Huber (C)

Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.

Genevieve Baujat (G)

Centre de Référence des Maladies Osseuses Constitutionnelles, Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.

Caroline Michot (C)

Centre de Référence des Maladies Osseuses Constitutionnelles, Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.

Mohammed Zarhrate (M)

Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Imagine Institute, Paris, France.

Marc Bras (M)

Bioinformatics Platform, Imagine Institute, Paris, France.

Lucile Boutaud (L)

Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.
Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, Paris, France.

Valérie Malan (V)

Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.
Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, Paris, France.

Tania Attie-Bitach (T)

Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.
Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, Paris, France.

Valerie Cormier-Daire (V)

Centre de Référence des Maladies Osseuses Constitutionnelles, Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France valerie.cormier-daire@inserm.fr.
Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Ellis-Van Creveld Syndrome: Clinical and...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines Hedgehog › Ellis-Van Creveld Syndrome: Clinical and...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies génétiques de la peau › Dysplasie ectodermique › Syndrome d'Ellis-van Creveld › Ellis-Van Creveld Syndrome: Clinical and...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Ellis-Van Creveld Syndrome: Clinical and...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Ellis-Van Creveld Syndrome: Clinical and...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Anomalies morphologiques congénitales des membres › Polydactylie › Ellis-Van Creveld Syndrome: Clinical and...