Christèle Dubourg
A5054136534- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Fetal and Pediatric Neurological Disorders
- RNA modifications and cancer
- Cleft Lip and Palate Research
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- Ocular Disorders and Treatments
- Genetic factors in colorectal cancer
- Congenital limb and hand anomalies
- Renal and related cancers
- Chromatin Remodeling and Cancer
- Cellular transport and secretion
- Craniofacial Disorders and Treatments
- Congenital Ear and Nasal Anomalies
- Developmental Biology and Gene Regulation
- RNA regulation and disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Peptidase Inhibition and Analysis
Institut de génétique et de développement de Rennes
2016-2025
Université de Rennes
2016-2025
Centre Hospitalier Universitaire de Rennes
2016-2025
Inserm
2023-2025
Université de Pau et des Pays de l'Adour
2025
Centre National de la Recherche Scientifique
2014-2024
Laboratoire de Génétique Cellulaire
2012-2024
Hôpital Pontchaillou
2008-2024
Laboratoire National de Référence
2022
Advisory Board Company (United States)
2011
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related variants altering HCN have reported so far. In 2014, we described five epileptic encephalopathy due de novo HCN1 variants. To delineate HCN1-related investigate genotype–phenotype correlations further, assembled a cohort of 33 unpublished patients novel pathogenic or likely variants:...
Although whole-exome sequencing (WES) is the gold standard for diagnosis of neurodevelopmental disorders (NDDs), it remains expensive some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" (ME) constitute an alternative strategy to WES, but its efficiency poorly known. In this study, we report experience 2 clinical centers using ME NDDs. We recruited 216 consecutive index patients with NDDs in French centers, corresponded daily practice units...
The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition numerous imbalances, including 15q13.3 microdeletion. Patients this microdeletion generally present relatively consistent breakpoints at BP4 and BP5, which include CHRNA7 gene. About 100 index cases have been reported since first publication 2008. This...
<h3>Background</h3> Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of prosencephalon. <h3>Methods</h3> A large European series 645 HPE probands (and 699 relatives), consisting 51% fetuses and 49% liveborn children, reported. <h3>Results</h3> Mutations four main genes involved (<i>SHH</i>, <i>ZIC2</i>, <i>SIX3</i>, <i>TGIF</i>) were identified 25% cases. The <i>SHH</i>, <i>TGIF</i> mutations inherited more than 70% these...
The von Hippel-Lindau gene (VHL) alteration, a common event in sporadic clear-cell renal-cell carcinoma (CCRCC), leads to highly vascularised tumours. Vascular endothelial growth factor (VEGF) is the major involved angiogenesis, but prognostic significance of both VHL inactivation and VEGF expression remain controversial. aims this study were analyse relationship between genetic epigenetic alterations, tumour or plasma expression, their respective value patients with CCRCC.A total 102 CCRCC...
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from deletion the distal part chromosome 22q13 that in most cases includes SHANK3 gene. considered major gene for PMS, but factors modulate severity remain largely unknown. In this study, we investigated 85 patients different rearrangements (78 deletions 7...
Holoprosencephaly (HPE) is the most common congenital cerebral malformation in humans, characterized by impaired forebrain cleavage and midline facial anomalies. It presents a high heterogeneity, both clinics genetics. We have developed novel targeted next-generation sequencing (NGS) assay screened cohort of 257 HPE patients. Mutations with confidence their deleterious effect were identified approximately 24% cases held for diagnosis, whereas variants uncertain significance 10% cases. This...
Mutations within either the SHH gene or its related pathway components are most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with essential functions of during forebrain development patterning. Here we summarize nature types deleterious sequence alterations among over one hundred distinct mutations (64 novel mutations) compare these to a dozen disease-related Hedgehog family members IHH DHH. This combined structural...
<h3>Background</h3> Holoprosencephaly (HPE), the most common malformation of human forebrain, may be due to mutations in genes associated with non-syndromic HPE. Mutations <i>ZIC2</i>, located on chromosome 13q32, are a cause non-syndromic, non-chromosomal <h3>Objective</h3> To characterise genetic and clinical findings patients <i>ZIC2</i> mutations. <h3>Methods</h3> Through National Institutes Health collaborating centres, DNA from approximately 1200 individuals HPE spectrum disorders was...
A recent clinical trial of controlled-release carbidopa/levodopa preparation afforded us the opportunity to examine effects chronically increasing circulating 3-O-methyldopa (OMD) levels on response levodopa. In patients taking standard Sinemet, both mean plasma OMD and area under concentration- versus-time curve (AUC) obtained during 8-hour periods blood sampling correlated highly with total daily intake formulation, levodopa was doubled. This, in turn, led a doubling level its AUC, whereas...
Abstract Patients with a submicroscopic deletion at 1q43q44 present intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb and corpus callosum abnormalities. However, the precise relationship between most of deleted genes clinical features in these patients still remains unclear. We studied 11 unrelated 1q44 microdeletion. showed that deletions occurred de novo all for whom both parents' DNA was available (10/11). All presented moderate to severe ID, seizures...
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have published. We aimed to better describe phenotype of this condition, focus on morphological neurological features. Through national collaborative study, we report large French 59 affected males interstitial duplication. Most (93%) shared...
PurposeVariants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy males and females. We aimed to investigate sex-specific differences.MethodsWe collected the data of 37 unpublished patients (18 19 females) IQSEC2 pathogenic variants 5 individuals unknown significance reviewed published variants. compared variant types phenotypes females performed an analysis isoforms.ResultsIQSEC2 mainly led premature truncation were scattered throughout...