دورية أكاديمية
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
| العنوان: | Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum |
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| المؤلفون: | Vibert, Roseline, Mignot, Cyril, Keren, Boris, Chantot-Bastaraud, Sandra, Portnoï, Marie-France, Nouguès, Marie-Christine, Moutard, Marie-Laure, Faudet, Anne, Whalen, Sandra, Haye, Damien, Garel, Catherine, Chatron, Nicolas, Rossi, Massimiliano, Vincent-Delorme, Catherine, Boute, Odile, Delobel, Bruno, Andrieux, Joris, Devillard, Françoise, Coutton, Charles, Puechberty, Jacques, Pebrel-Richard, Céline, Colson, Cindy, Gerard, Marion, Missirian, Chantal, Sigaudy, Sabine, Busa, Tiffany, Doco-Fenzy, Martine, Malan, Valérie, Rio, Marlène, Doray, Bérénice, Sanlaville, Damien, Siffroi, Jean-Pierre, Héron, Delphine, Heide, Solveig |
| المساهمون: | CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (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), Hôpital Jeanne de Flandre Lille, Institut Catholique de Lille (ICL), Université catholique de Lille (UCL), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire CHU Grenoble (CHUGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Service de génétique médicale Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Arnaud de Villeneuve CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de Génétique Clinique 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), Laboratoire de Génétique Moléculaire Hôpital de la Timone - APHM, Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital universitaire Robert Debré Reims (CHU Reims), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Service de Génétique CHU La Réunion, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) |
| المصدر: | ISSN: 0009-9163. |
| بيانات النشر: | HAL CCSD Wiley |
| سنة النشر: | 2022 |
| المجموعة: | Université Jean Monnet – Saint-Etienne: HAL |
| مصطلحات موضوعية: | 8p inverted duplication-deletion, AnCC, anomalies of the corpus callosum, candidate genes, intellectual disability (ID), invdupdel(8p), MESH: Chromosome Deletion, MESH: Chromosome Inversion, MESH: Chromosomes, Human, Pair 8, MESH: Corpus Callosum, MESH: Genetic Association Studies, MESH: Humans, MESH: Intellectual Disability, MESH: Leukoencephalopathies, MESH: Phenotype, MESH: Trisomy, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics |
| الوصف: | 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 chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID), associated with various cerebral and extra-cerebral malformations. Invdupdel(8p) is the most common recurrent chromosomal rearrangement in ID patients with anomalies of the corpus callosum (AnCC). Only a minority of invdupdel(8p) cases reported in the literature to date had both brain cerebral imaging and chromosomal microarray (CMA) with precise breakpoints of the rearrangements, making genotype-phenotype correlation studies for AnCC difficult. In this study, we report the clinical, radiological, and molecular data from 36 new invdupdel(8p) cases including three fetuses and five individuals from the same family, with breakpoints characterized by CMA. Among those, 97% (n = 32/33) of patients presented with mild to severe developmental delay/ID and 34% had seizures with mean age of onset of 3.9 years (2 months-9 years). Moreover, out of the 24 patients with brain MRI and 3 fetuses with neuropathology analysis, 63% (n = 17/27) had AnCC. We review additional data from 99 previously published patients with invdupdel(8p) and compare data of 17 patients from the literature with both CMA analysis and brain imaging to refine genotype-phenotype correlations for AnCC. This led us to refine a region of 5.1 Mb common to duplications of patients with AnCC and discuss potential candidate genes within this region. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/34866188; inserm-03838049; https://inserm.hal.science/inserm-03838049Test; https://inserm.hal.science/inserm-03838049/documentTest; https://inserm.hal.science/inserm-03838049/file/Clinical%20Genetics%20-%202021%20-%20Vibert%20-%20Neurodevelopmental%20phenotype%20in%2036%20new%20patients%20with%208p%20inverted%20duplication%20deletion%20.pdfTest; PUBMED: 34866188; WOS: 000730416700001 |
| DOI: | 10.1111/cge.14096 |
| الإتاحة: | https://doi.org/10.1111/cge.14096Test https://inserm.hal.science/inserm-03838049Test https://inserm.hal.science/inserm-03838049/documentTest https://inserm.hal.science/inserm-03838049/file/Clinical%20Genetics%20-%202021%20-%20Vibert%20-%20Neurodevelopmental%20phenotype%20in%2036%20new%20patients%20with%208p%20inverted%20duplication%20deletion%20.pdfTest |
| رقم الانضمام: | edsbas.E6CF4C0A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/cge.14096 |
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