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Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion

Authors :
Caroline Schluth-Bolard
Claudia A. L. Ruivenkamp
Brigitte Benzacken
Zeynep Tümer
Joris Andrieux
Nicole Bain
Kerry Fagan
Nicolas Chatron
Marianne Till
Damien Sanlaville
Clarisse Baumann
Odile Boute
P. Edery
Laura Bernardini
Céline Bonnet
Anna Hackett
Massimiliano Rossi
Bruno Leheup
Julie Désir
Arie van Haeringen
Séverine Drunat
Yves Alembik
Véronique Haddad
Marion Gérard
Pia Castelluccio
Anne Dieux
Helen Stewart
Azzedine Aboura
Elisabeth Flori
Laura Roos
Joanna McParland
Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon]
Hospices Civils de Lyon (HCL)
Unité de Cytogénétique [CHU Debré]
AP-HP Hôpital universitaire Robert-Debré [Paris]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Laboratoire de Génétique Médicale
Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
Institut de Pathologie et Génétique [Gosselies] (I.P.G.)
Service de Génétique clinique
Unité de Génétique Clinique [CHU Debré]
Service de Génétique [CHU Caen]
Université de Caen Normandie (UNICAEN)
Normandie Université (NU)-Normandie Université (NU)-CHU Caen
Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN)
Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE)
Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)
Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy]
Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)
Service de génétique [Hôpial Louis Pradel - HCL]
Hôpital Louis Pradel [CHU - HCL]
Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)
Centre de recherche en neurosciences de Lyon (CRNL)
Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Laboratoire de Cytogénétique
CHU Strasbourg-Hôpital de Hautepierre [Strasbourg]
Service de Génétique Clinique [Hautepierre Strasbourg]
Hôpital de Hautepierre [Strasbourg]
Department of Clinical Genetics [Churchill Hospital]
Churchill Hospital Oxford Centre for Haematology
Mendel Laboratory
Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS)
Ospedale Cardarelli
Department of Clinical Genetics [Copenhagen]
Rigshospitalet [Copenhagen]
Copenhagen University Hospital-Copenhagen University Hospital
University of Newcastle [Australia] (UoN)
Department of Clinical Genetics, Leiden University Medical Centre
Clinical Cytogeneticist Laboratory for Diagnostic Genome Analysis [Leiden University Medical Center]
Leiden University Medical Center (LUMC)
Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement
Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM)
Unité de Cytogénétiqué, Hôpital Jean-Verdier
Laboratoire de Biologie Moléculaire de la Cellule (LBMC)
Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon-Université de Lyon
Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL)
Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
University of Newcastle [Callaghan, Australia] (UoN)
Universiteit Leiden-Universiteit Leiden
École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Source :
American Journal of Medical Genetics Part A, American Journal of Medical Genetics Part A, Wiley, 2015, 167 (5), pp.1008-1017. ⟨10.1002/ajmg.a.36856⟩, American Journal of Medical Genetics Part A, 2015, 167 (5), pp.1008-1017. ⟨10.1002/ajmg.a.36856⟩, American Journal of Medical Genetics Part A, 167(5), 1008-1017
Publication Year :
2015

Abstract

International audience; Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including 18 patients (4M/14F) aged from 2 days to 67 years and comprising two familial cases. The patients presented with a characteristic phenotype including mild to moderate intellectual disability (100%), intrauterine (92%) and postnatal (94%) growth retardation, microcephaly (77%), short hands and feet (83%), brachydactyly (70%), fifth finger clinodactyly (78%) and facial dysmorphism with a bulbous nose (72%), abnormal ears (67%) and micrognathia (56%). Other findings were abnormal palate (50%), single transverse palmar crease (53%), renal (38%), cardiac (38%), and genital (23%) malformations. The deletions were characterized by chromosome microarray. They were of different sizes (490 kb to 20.95 Mb) localized within chromosome bands 1q23.3-q31.2 (chr1:160797550-192912120, hg19). The 490 kb deletion is the smallest deletion reported to date associated with this phenotype. We delineated three regions that may contribute to the phenotype: a proximal one (chr1:164,501,003-167,022,133), associated with cardiac and renal anomalies, a distal one (chr1:178,514,910-181,269,712) and an intermediate 490 kb region (chr1:171970575-172460683, hg19), deleted in the most of the patients, and containing DNM3, MIR3120 and MIR214 that may play an important role in the phenotype. However, this genetic region seems complex with multiple regions giving rise to the same phenotype.

Details

Language :
English
ISSN :
15524825 and 15524833
Database :
OpenAIRE
Journal :
American Journal of Medical Genetics Part A, American Journal of Medical Genetics Part A, Wiley, 2015, 167 (5), pp.1008-1017. ⟨10.1002/ajmg.a.36856⟩, American Journal of Medical Genetics Part A, 2015, 167 (5), pp.1008-1017. ⟨10.1002/ajmg.a.36856⟩, American Journal of Medical Genetics Part A, 167(5), 1008-1017
Accession number :
edsair.doi.dedup.....c1f71acd1de54310a7db3ada3e83ba97