Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Humans Comparative Genomic Hybridization Abnormalities, Multiple / genetics Microcephaly / genetics Syndrome Genetic Association Studies
19p13.3 NFIC prox 19p13.3 dup proximal 19p13.3 duplication syndrome

Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
Jan 2023
Historique:
revised: 16 08 2022
received: 16 05 2022
accepted: 20 09 2022
pubmed: 6 10 2022
medline: 15 12 2022
entrez: 5 10 2022
Statut: ppublish

Résumé

A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microcephaly, psychomotor delay and dysmorphic features. The aim of our study was to better characterize the syndrome associated with duplications in the proximal 19p13.3 region (prox 19p13.3 dup), and to propose a comprehensive analysis of the underlying genomic mechanism. We report the largest cohort of patients with prox 19p13.3 dup through a collaborative study. We collected 24 new patients with terminal or interstitial 19p13.3 duplication characterized by array-based Comparative Genomic Hybridization (aCGH). We performed mapping, phenotype-genotype correlations analysis, critical region delineation and explored three-dimensional chromatin interactions by analyzing Topologically Associating Domains (TADs). We define a new 377 kb critical region (CR 1) in chr19: 3,116,922-3,494,377, GRCh37, different from the previously described critical region (CR 2). The new 377 kb CR 1 includes a TAD boundary and two enhancers whose common target is PIAS4. We hypothesize that duplications of CR 1 are responsible for tridimensional structural abnormalities by TAD disruption and misregulation of genes essentials for the control of head circumference during development, by breaking down the interactions between enhancers and the corresponding targeted gene.

Identifiants

DOI: 10.1002/ajmg.a.62983 PMID: 36196855
pubmed: 36196855
doi: 10.1002/ajmg.a.62983
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

52-63

Informations de copyright

© 2022 Wiley Periodicals LLC.

Références

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Auteurs

Guillaume Jouret (G)

Department of Genetics, Reims University Hospital, Reims, France.
National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.
ORCID: 0000-0002-9657-197X

Matthieu Egloff (M)

Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.
ORCID: 0000-0002-3146-1622

Emilie Landais (E)

Department of Genetics, Reims University Hospital, Reims, France.

Olivier Tassy (O)

IGBMC, Strasbourg, France.

Fabienne Giuliano (F)

Department of Genetics, Nice University Hospital, Nice, France.

Houda Karmous-Benailly (H)

Department of Genetics, Nice University Hospital, Nice, France.

Charles Coutton (C)

Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.
ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.

Véronique Satre (V)

Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.

Françoise Devillard (F)

Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.

Klaus Dieterich (K)

Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.

Gaëlle Vieville (G)

Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.

Paul Kuentz (P)

Génétique Biologique, PCBio, Besançon University Hospital, Besançon, France.
ORCID: 0000-0003-2814-6303

Cédric le Caignec (C)

ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
Department of Genetics, Nantes University Hospital, Nantes, France.

Claire Beneteau (C)

Department of Genetics, Nantes University Hospital, Nantes, France.

Bertrand Isidor (B)

Department of Genetics, Nantes University Hospital, Nantes, France.

Mathilde Nizon (M)

Department of Genetics, Nantes University Hospital, Nantes, France.

Patrick Callier (P)

ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
Department of Genetics, Dijon University Hospital, Dijon, France.

Valentine Marquet (V)

ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
Department of Genetics, Limoges University Hospital, Limoges, France.

Eric Bieth (E)

Department of Genetics, Toulouse University Hospital, Toulouse, France.

Jonathan Lévy (J)

Department of Genetics, Robert-Debré University Hospital, Paris, France.

Anne-Claude Tabet (AC)

Department of Genetics, Robert-Debré University Hospital, Paris, France.

Stanislas Lyonnet (S)

Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.
INSERM U-1163, Université de Paris, Paris, France.

Geneviève Baujat (G)

Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.

Marlène Rio (M)

Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.

François Cartault (F)

Department of Genetics, La Réunion University Hospital, Saint Denis, France.

Sophie Scheidecker (S)

Strasbourg University Hospital, Strasbourg, France.

Aurélie Gouronc (A)

Strasbourg University Hospital, Strasbourg, France.

Audrey Schalk (A)

Strasbourg University Hospital, Strasbourg, France.

Clémence Jacquin (C)

Department of Genetics, Reims University Hospital, Reims, France.
ORCID: 0000-0001-8195-0507

Marta Spodenkiewicz (M)

Department of Genetics, Reims University Hospital, Reims, France.

Chloé Angélini (C)

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.
ORCID: 0000-0002-5825-5319

Perrine Pennamen (P)

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

Caroline Rooryck (C)

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

Martine Doco-Fenzy (M)

Department of Genetics, Reims University Hospital, Reims, France.
ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
EA3801, SFR CAPSANTE, Reims, France.

Céline Poirsier (C)

Department of Genetics, Reims University Hospital, Reims, France.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical and genomic delineation of the new...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Hybridation génomique comparative › Clinical and genomic delineation of the new...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Clinical and genomic delineation of the new...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Microcéphalie › Clinical and genomic delineation of the new...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › Clinical and genomic delineation of the new...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Clinical and genomic delineation of the new...