1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clemence Jacquin; Emilie Landais; Celine Poirsier; Alexandra Afenjar; Ahmad Akhavi; Nathalie Bednarek; Caroline Benech; Adeline Bonnard; Damien Bosquet; Lydie Burglen; Patrick Callier; Sandra Chantot-Bastaraud; Christine Coubes; Charles Coutton; Bruno Delobel; Margaux Descharmes; Jean-Michel Dupont; Vincent Gatinois; Nicolas Gruchy; Sarah Guterman; Abdelkader Heddar; Lucas Herissant; Delphine Heron; Bertrand Isidor; Pauline Jaeger; Guillaume Jouret; Boris Keren; Paul Kuentz; Cedric Le Caignec; Jonathan Levy; Nathalie Lopez; Zoe Manssens; Dominique Martin-Coignard; Isabelle Marey; Cyril Mignot; Chantal Missirian; Celine Pebrel-Richard; Lucile Pinson; Jacques Puechberty; Sylvia Redon; Damien Sanlaville; Marta Spodenkiewicz; Anne-Claude Tabet; Alain Verloes; Gaelle Vieville; Catherine Yardin; Francois Vialard; Martine Doco-Fenzy

doi:10.1002/ajmg.a.63041

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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clemence Jacquin, Emilie Landais, Celine Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Benech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, …

American journal of medical genetics. Part A, Vol.191(2), pp.445-458

02/2023

DOI: https://doi.org/10.1002/ajmg.a.63041

PMID: 36369750

Résumé

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogeneticiens de Langue Francaise), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.

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Titre: 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Créateurs - sans rôle: Clemence Jacquin - CHU Reims, Serv Genet, CRMR AnDDI Rares, 47 Rue Cognacq Jay, F-51090 Reims, France
Emilie Landais - CHU Reims, Serv Genet, CRMR AnDDI Rares, 47 Rue Cognacq Jay, F-51090 Reims, France
Celine Poirsier - CHU Reims, Serv Genet, CRMR AnDDI Rares, 47 Rue Cognacq Jay, F-51090 Reims, France
Alexandra Afenjar - Assistance Publique – Hôpitaux de Paris
Ahmad Akhavi - CHU Reims, Cardiol Pediat & Congenitale, Reims, France
Nathalie Bednarek - CHU Reims, Serv Pediat, Pole Femme Parents Enfants, Reims, France
Caroline Benech - Génétique, Génomique Fonctionnelle et Biotechnologies
Adeline Bonnard - Hop Robert Debre, Dept Genet, Paris, France
Damien Bosquet - Hosp Civils Lyon, Serv Genet, Bron, France
Lydie Burglen - Assistance Publique – Hôpitaux de Paris
Patrick Callier - CHU Dijon, Lab Cytogenet, Dijon, France
Sandra Chantot-Bastaraud - Sorbonne Univ, Hop Armand Trousseau, AP HP, Dept Genet Med, Paris, France
Christine Coubes - Univ Montpellier, Ctr Reference Anomalies Dev SOOR, Malad Rares & Med Personnalisee, CHU Montpellier,Dept Genet Med,Genet Clin, Montpellier, France
Charles Coutton - CHU Grenoble Alpes, Hop Couple Enfant, Dept Genet & Procreat, Grenoble, France
Bruno Delobel - Hop St Vincent De Paul, GH Inst Catholique Lille, Ctr Genet Chromosom, Lille, France
Margaux Descharmes - CHU Reims, Serv Pediat, Pole Femme Parents Enfants, Reims, France
Jean-Michel Dupont - Ctr Univ Paris Cite, AP HP, Lab Cytogenet Constitut, Site Cochin, Paris, France
Vincent Gatinois - Univ Montpellier, Dept Genet Mol & Cytogenom, Unite Genet Chromosom, CHU Montpellier,Plateforme ChromoStem, Montpellier, France
Nicolas Gruchy - Centre Hospitalier Universitaire de Caen Normandie
Sarah Guterman - Ctr Hosp Intercommunal Poissy St Germain En Laye, Dept Genet, Poissy, France
Abdelkader Heddar - Ctr Univ Paris Cite, AP HP, Lab Cytogenet Constitut, Site Cochin, Paris, France
Lucas Herissant - CHU Reims, Serv Genet, CRMR AnDDI Rares, 47 Rue Cognacq Jay, F-51090 Reims, France
Delphine Heron - Assistance Publique – Hôpitaux de Paris
Bertrand Isidor - CHU Nantes, Serv Genet Med, Nantes, France
Pauline Jaeger - Hosp Civils Lyon, Serv Genet, Bron, France
Guillaume Jouret - Natl Ctr Genet, Lab Natl Sante, Dudelange, Luxembourg
Boris Keren - Assistance Publique – Hôpitaux de Paris
Paul Kuentz - CHU Besancon, Oncobiol Genet Bioinformat, Besancon, France
Cedric Le Caignec - Université de Nantes
Jonathan Levy - Hop Robert Debre, Dept Genet, Paris, France
Nathalie Lopez - Grp Hosp Univ Est Parisien, Serv Neuropediatrie, Hop Armand Trousseau, Paris, France
Zoe Manssens - Hop St Vincent De Paul, GH Inst Catholique Lille, Ctr Genet Chromosom, Lille, France
Dominique Martin-Coignard - CH Mans, Serv Genet Med, Le Mans, France
Isabelle Marey - CHU Grenoble Alpes, Hop Couple Enfant, Dept Genet & Procreat, Grenoble, France
Cyril Mignot - Assistance Publique – Hôpitaux de Paris
Chantal Missirian - Assistance Publique Hôpitaux de Marseille
Celine Pebrel-Richard - CHU Clermont Ferrand, Serv Cytogenet Med, Clermont Ferrand, France
Lucile Pinson - Univ Montpellier, Ctr Reference Anomalies Dev SOOR, Malad Rares & Med Personnalisee, CHU Montpellier,Dept Genet Med,Genet Clin, Montpellier, France
Jacques Puechberty - Univ Montpellier, Ctr Reference Anomalies Dev SOOR, Malad Rares & Med Personnalisee, CHU Montpellier,Dept Genet Med,Genet Clin, Montpellier, France
Sylvia Redon - Génétique, Génomique Fonctionnelle et Biotechnologies
Damien Sanlaville - Hosp Civils Lyon, Serv Genet, Bron, France
Marta Spodenkiewicz - CHU Reims, Serv Genet, CRMR AnDDI Rares, 47 Rue Cognacq Jay, F-51090 Reims, France
Anne-Claude Tabet - Hop Robert Debre, Dept Genet, Paris, France
Alain Verloes - Hop Robert Debre, Dept Genet, Paris, France
Gaelle Vieville - CHU Grenoble Alpes, Hop Couple Enfant, Dept Genet & Procreat, Grenoble, France
Catherine Yardin - Univ Limoges, Limoges Univ Hosp, Dept Cytogenet & Clin Genet, Limoges, France
Francois Vialard - Ctr Hosp Intercommunal Poissy St Germain En Laye, Dept Genet, Poissy, France
Martine Doco-Fenzy - CHU Reims, Serv Genet, CRMR AnDDI Rares, 47 Rue Cognacq Jay, F-51090 Reims, France
Détails de publication: American journal of medical genetics. Part A, Vol.191(2), pp.445-458
Éditeur: Wiley
Nombre de pages: 14
Identifiants: 99141201309311
Unité académique: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Langue: English
Type de ressource: Journal article