Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series - Université de Rennes Accéder directement au contenu
Article Dans Une Revue Prenatal Diagnosis Année : 2022

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series

1 Hôpital Necker - Enfants Malades [AP-HP]
2 SU FM - Sorbonne Université - Faculté de Médecine
3 Hôpital Louis Pradel [CHU - HCL]
4 CHU Nîmes - Hôpital Universitaire Carémeau [Nîmes]
5 BREED - Biologie de la Reproduction, Environnement, Epigénétique & Développement
6 CHI Poissy-Saint-Germain
7 Département de génétique [Robert Debré]
8 GHFC (UMR_3571 / U-Pasteur_1) - Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions
9 Maternité Port-Royal [CHU Cochin]
10 Hôpital Cochin [AP-HP]
11 Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes]
12 Service de Cytogénétique et de Biologie Cellulaire
13 Irset - Institut de recherche en santé, environnement et travail
14 CHU Nantes - Centre Hospitalier Universitaire de Nantes
15 IAB - Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble)
16 CHUGA - Centre Hospitalier Universitaire [CHU Grenoble]
17 IMoST - Imagerie Moléculaire et Stratégies Théranostiques
18 Service de Cytogénétique Médicale [CHU Clermont-Ferrand]
19 CHU Gabriel Montpied [Clermont-Ferrand]
20 CHU Estaing [Clermont-Ferrand]
21 CHRU Brest - Centre Hospitalier Régional Universitaire de Brest
22 UBO - Université de Brest
23 GHBS - Groupe Hospitalier Bretagne Sud
24 CHU Nîmes - Centre Hospitalier Universitaire de Nîmes
25 CHU Montpellier
26 UM - Université de Montpellier
27 HFME - Hôpital Femme Mère Enfant [CHU - HCL]
28 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
29 Service de radiologie pédiatrique [CHU Necker]
30 UPCité - Université Paris Cité
Vuthy Ea
Damien Sanlaville

Résumé

Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study aimed to further characterize the prenatal phenotype of this syndrome as well as to attempt to establish phenotype-genotype correlations. We collected ultrasound findings from 22 fetuses diagnosed with a pure 6qter deletion. We reviewed the literature and compared our 22 cases with 14 fetuses previously reported as well as with patients with heterozygous DLL1 pathogenic variants. Brain structural alterations were observed in all fetuses. The most common findings (>70%) were cerebellar hypoplasia, ventriculomegaly, and corpus callosum abnormalities. Gyration abnormalities were observed in 46% of cases. Occasional findings included cerebral heterotopia, aqueductal stenosis, vertebral malformations, dysmorphic features, and kidney abnormalities. This is the first series of fetuses diagnosed with pure terminal 6q deletion. Based on our findings, we emphasize the prenatal sonographic anomalies, which may suggest the syndrome. Furthermore, this study highlights the importance of chromosomal microarray analysis to search for submicroscopic deletions of the 6q27 region involving the DLL1 gene in fetuses with these malformations.
Fichier non déposé

Dates et versions

hal-03481652 , version 1 (15-12-2021)

Identifiants

Citer

Marion Lesieur-Sebellin, Marianne Till, Philippe Khau van Kien, Bérénice Herve, Nicolas Bourgon, et al.. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series. Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩. ⟨hal-03481652⟩
62 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More