EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Archive ouverte : Article de revue

Gordon, Christopher T. | Petit, Florence | Oufadem, Myriam | Decaestecker, Charles | Jourdain, Anne-Sophie | Andrieux, Joris | Malan, Valérie | Alessandri, Jean-Luc | Baujat, Geneviève | Baumann, Clarisse | Boute-Benejean, Odile | Caumes, Roseline | Delobel, Bruno | Dieterich, Klaus | Gaillard, Dominique | Gonzales, Marie | Lacombe, Didier | Escande, Fabienne | Manouvrier-Hanu, Sylvie | Marlin, Sandrine | Mathieu-Dramard, Michèle | Mehta, Sarju G. | Simonic, Ingrid | Munnich, Arnold | Vekemans, Michel | Porchet, Nicole | de Pontual, Loïc | Sarnacki, Sabine | Attié-Bitach, Tania | Lyonnet, Stanislas | Holder-Espinasse, Muriel | Amiel, Jeanne

Edité par HAL CCSD ; BMJ Publishing Group

International audience. BACKGROUND: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated. RESULTS: We report on 10 cases presenting with MFD, eight of whom had OA, either due to de novo 17q21.31 deletions encompassing EFTUD2 and neighbouring genes or de novo heterozygous EFTUD2 loss-of-function mutations. No EFTUD2 deletions or mutations were found in a series of patients with isolated OA or isolated oculoauriculovertebral spectrum (OAVS). CONCLUSIONS: These data exclude a contiguous gene syndrome for the association of MFD and OA, broaden the spectrum of clinical features ascribed to EFTUD2 haploinsufficiency, define a novel syndromic OA entity, and emphasise the necessity of mRNA maturation through the spliceosome complex for global growth and within specific regions of the embryo during development. Importantly, the majority of patients reported here with EFTUD2 lesions were previously diagnosed with Feingold or CHARGE syndromes or presented with OAVS plus OA, highlighting the variability of expression and the wide range of differential diagnoses.

Consulter en ligne

Suggestions

Du même auteur

Further delineation of the MECP2 duplication syndrome phenotype in 59 Frenc...

Archive ouverte: Article de revue

Miguet, Marguerite | 2018-06-01

IF 5.751. International audience. The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereot...

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome...

Archive ouverte: Article de revue

Jacquemont, Sébastien | 2011-10-06

International audience. Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations fro...

Incomplete penetrance and phenotypic variability of 6q16 deletions includin...

Archive ouverte: Article de revue

Khattabi, Laïla El | 2015-08

International audience. 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were...

Du même sujet

ECOS. 4, Neurologie, psychiatrie, hématologie, ophtalmologie, ORL, CMF / Be...

Livre | Roussel, Benoît (19..-....) - auteur en médecine. Auteur | 2024

Genotype-phenotype correlation in four 15q24 deleted patients identified by...

Archive ouverte: Article de revue

Andrieux, Joris | 2009-12

International audience. Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial char...

Droits de l'homme et libertés fondamentales / Henri Oberdorff,...

Livre | Oberdorff, Henri (1947-....). Auteur | 2023 - 9e édition

Les droits de l'homme et les libertés fondamentales constituent l'un des fondements essentiels de toute société démocratique. Ils représentent le patrimoine juridique commun de l'humanité compte tenu de leur universalisme. Le droi...

Clinical and molecular characterization of 17q21.31 microdeletion syndrome ...

Archive ouverte: Article de revue

Dubourg, Christèle | 2011-03

International audience. Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14...

Humanisme et droit pénal / sous la coordination de Ludivine Richefeu

Livre | Richefeu, Ludivine (1987-....). Éditeur scientifique | 2023

« Je suis Homme ; rien de ce qui est humain ne m’est étranger. » Appliqués au droit pénal, ces mots de Terence rappellent que ce droit ne peut être pensé que par le prisme de l’humain, à rebours des politiques actuelles qui poursu...

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplicatio...

Archive ouverte: Article de revue

Vibert, Roseline | 2022-03

International audience. Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of c...

Chargement des enrichissements...