Publications of Vinciane DIDEBERG
Bookmark and Share    
Full Text
See detailBrain imaging and genetics in patients with congenital hypogonadotropic hypogonadism: a multicenter Belgian study.
VALDES SOCIN, Hernan Gonzalo ULiege; LIBIOULLE, Cécile ULiege; HARVENGT, Julie ULiege et al

in Jorgensen, Jens OL (Ed.) NENEG Abstract Book Communications (2018, April 19)

Detailed reference viewed: 41 (7 ULiège)
Full Text
See detailLe Syndrome de Kallmann: un vieux syndrome revisité par la génétique
VALDES SOCIN, Hernan Gonzalo ULiege; LIBIOULLE, Cécile ULiege; DEBRAY, François-Guillaume ULiege et al

in Urologic (2018), 14

Le contrôle neuroendocrinien de la reproduction chez l’homme est régi par un réseau d’environ 1.500 neurones hypothalamiques sécrétant la gonadotropin-releasing hormone (GnRH). Ce réseau module l’activité ... [more ▼]

Le contrôle neuroendocrinien de la reproduction chez l’homme est régi par un réseau d’environ 1.500 neurones hypothalamiques sécrétant la gonadotropin-releasing hormone (GnRH). Ce réseau module l’activité de l’axe de reproduction au cours de la vie. L’hypogonadisme hypogonadotrope congénital isolé (HHCI) est un syndrome clinique complexe, caractérisé par une insuffisance pubertaire partielle ou complète. Il peut découler d’une insuffisance hypothalamique sécrétoire de la GnRH ou d’une insuffisance de la sécrétion et/ou des effets des gonadotrophines hypophysaires. Chez l’homme, plusieurs gènes participant au développement olfactif et à la migration des neurones à GnRH interagissent pendant la vie embryonnaire. Les stéroïdes sexuels sont, à leur tour, nécessaires pour promouvoir la neurogenèse et le développement neurocognitif. Un nombre croissant de mutations de gènes participant à ce développement ont été identifiées comme étant responsables de HHCI. Sur base de la présence ou de l’absence d’un déficit de l’olfaction, l’HH est répertorié en deux syndromes, à savoir: HH avec altérations olfactives (syndrome de Kallmann) et l’hypogonadisme hypogonadotrophique idiopathique (IHH) avec une olfaction intacte ou normosmique (hypogonadisme IHH). Le syndrome de Kallmann (KS) est une condition hétérogène qui affecte 1 homme sur 5.000, avec un rapport homme/femme de 3/1. Le KS est associé à des mutations des gènes KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, SEMA7A, NELF, WDR11, SOX10, NSMF, AXL, FEZF1, DCC/NTN1 et KLB. Ces mutations entraînent des défauts de la migration neuronale, avec, comme possibles conséquences, un déficit variable au niveau de l’axe reproducteur, des troubles de l’olfaction, une surdité neurosensorielle. Des malformations y sont parfois associées, y compris un colobome, des syncinésies controlatérales, une malformation crâniofaciale et/ou une agénésie rénale. Dans cet article de synthèse, nous revisitons le syndrome de Kallmann vis-à-vis de ses conséquences sur la reproduction et sur le développement cérébral. [less ▲]

Detailed reference viewed: 37 (4 ULiège)
Full Text
See detailA next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
BOEMER, François ULiege; Fasquelle, Corinne ULiege; D'OTREPPE DE BOUVETTE, Stéphanie ULiege et al

in Scientific Reports (2017), 7(1), 17641

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview ... [more ▼]

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disorders. We thus aimed to demonstrate that NGS was reliable for detecting pathogenic mutations on genomic material extracted from DBS. Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes related to NBS. Results were compared to the known pathogenic mutations previously identified by Sanger sequencing. Causal mutations were readily characterized, and multiple polymorphisms have been identified. According to variant database prediction, an unexplained homozygote pathogenic mutation, unrelated to patient's disorder, was also found in one sample. While amount and quality of DBS-extracted DNA are adequate to identify causal mutations by NGS, bioinformatics analysis revealed critical drawbacks: coverage fluctuations between regions, difficulties in identifying insertions/deletions, and inconsistent reliability of database-referenced variants. Nevertheless, results of this study lead us to consider future perspectives regarding "next-generation" NBS. [less ▲]

Detailed reference viewed: 111 (28 ULiège)
Full Text
See detailHypogonadisme hypogonadotrope anosmique associé à une nouvelle mutation hétérozygote c.937C>T, p.His314Tyr de l'isoforme IIIb du gène FGR1.
VALDES SOCIN, Hernan Gonzalo ULiege; CORMAN, Vinciane ULiege; LIBIOULLE, Cécile ULiege et al

in Annales d'Endocrinologie : 33ème congrès de la Société Française d'Endocrinologie (2016, October)

Detailed reference viewed: 17 (1 ULiège)
Full Text
See detailInfluence of COMT Genotype on Antero-Posterior Cortical Functional Connectivity Underlying Interference Resolution
Jaspar, Mathieu ULiege; Manard, Marine ULiege; DIDEBERG, Vinciane ULiege et al

in Cerebral Cortex (2016), 26

Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met) has received increasing attention as a possible modulator of executive functioning and its neural correlates ... [more ▼]

Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met) has received increasing attention as a possible modulator of executive functioning and its neural correlates. However, this attention has generally centred on the prefrontal cortices because of the well-known direct impact of COMT enzyme on these cerebral regions. In this study, we were interested in the modulating effect of COMT genotype on anterior and posterior brain areas underlying interference resolution during a Stroop task. More specifically, we were interested in the functional connectivity between the right inferior frontal operculum (IFop), an area frequently associated with inhibitory efficiency, and posterior brain regions involved in reading/naming processes (the two main non-executive determinants of the Stroop effect). The Stroop task was administered during fMRI scanning to three groups of 15 young adults divided according to their COMT Val158Met genotype [Val/Val (VV), Val/Met (VM) and Met/Met (MM)]. Results indicate greater activity in the right IFop and the left middle temporal gyrus (MTG) in homozygous VV individuals than in Met allele carriers. In addition, the VV group exhibited stronger positive functional connectivity between these two brain regions and stronger negative connectivity between the right IFop and left lingual gyrus. These results confirm the impact of COMT genotype on frontal function. They also strongly suggest that differences in frontal activity influence posterior brain regions related to a non-executive component of the task. Especially, changes in functional connectivity between anterior and posterior brain areas might correspond to compensatory processes for performing the task efficiently when the available dopamine level is low. [less ▲]

Detailed reference viewed: 84 (32 ULiège)
Full Text
See detailHypogonadisme hypogonadotrope normosmique familial : identification d'une nouvelle mutation c.1664-2A> T du gène FGFR1
VALDES SOCIN, Hernan Gonzalo ULiege; Pintiaux, Axelle ULiege; LIBIOULLE, Cécile ULiege et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

Detailed reference viewed: 45 (5 ULiège)
Full Text
See detailModulating effect of COMT Val158Met polymorphism on interference resolution during a working memory task
Jaspar, Mathieu ULiege; DIDEBERG, Vinciane ULiege; Bours, Vincent ULiege et al

in Brain and Cognition (2015), 95

Genetic variability related to the catechol-O-methyltransferase (COMT) gene has received increasing attention in the last 15 years, in particular as a potential modulator of the neural substrates ... [more ▼]

Genetic variability related to the catechol-O-methyltransferase (COMT) gene has received increasing attention in the last 15 years, in particular as a potential modulator of the neural substrates underlying inhibitory processes and updating in working memory (WM). In an event-related functional magnetic resonance imaging (fMRI) study, we administered a modified version of the Sternberg probe recency task (Sternberg, 1966) to 43 young healthy volunteers, varying the level of interference across successive items. The task was divided into two parts (high vs. low interference) to induce either proactive or reactive control processes. The participants were separated into three groups according to their COMT Val158Met genotype [Val/Val (VV); Val/Met (VM); Met/Met (MM)]. The general aim of the study was to determine whether COMT polymorphism has a modulating effect on the neural substrates of interference resolution during WM processing. Results indicate that interfering trials were associated with greater involvement of frontal cortices (bilateral medial frontal gyrus, left precentral and superior frontal gyri, right inferior frontal gyrus) in VV homozygous subjects (by comparison to Met allele carriers) only in the proactive condition of the task. In addition, analysis of peristimulus haemodynamic responses (PSTH) revealed that the genotype-related difference observed in the left SFG was specifically driven by a larger increase in activity from the storage to the recognition phase of the interfering trials in VV homozygous subjects. These results confirm the impact of COMT genotype on inhibitory processes during a WM task, with an advantage for Met allele carriers. Interestingly, this impact on frontal areas is present only when the level of interference is high, and especially during the transition from storage to recognition in the left superior frontal gyrus. [less ▲]

Detailed reference viewed: 113 (11 ULiège)
Full Text
See detailPHARMACOGENOMIQUE ET MEDECINE PERSONNALISEE : VERS UN SCREENING SYSTEMATIQUE DE LA POPULATION ?
DIDEBERG, Vinciane ULiege; SEGERS, Karin ULiege; KOOPMANSCH, Benjamin ULiege et al

in Revue Médicale de Liège (2015), 70(5-6), 251-6

Recent advances in medical genomics open new perspectives for personalized medicine through the identification of genetic variants that influence drug response and/or the risk of side effects. Today, the ... [more ▼]

Recent advances in medical genomics open new perspectives for personalized medicine through the identification of genetic variants that influence drug response and/or the risk of side effects. Today, the clinical applications of pharmacogenetics remain scarce as a consequence of the cost and turn-around-time of genetic tests. However, a few tests are recommended, for instance before the prescription of some anti-cancer agents or the anti-retroviral agent abacavir. In the future, we will probably move either towards rapid targeted tests or towards a large screening, before any diagnosis, of all the genetic factors influencing the therapeutic response. In that case, physicians will have to consult the patient genomic data before drug prescription in order to personalize the choice of the therapeutic agent or its dosage. However, such a genomic approach brings economical and ethical questions and will require further progress in our capacity to interpret and store the personal genomic data without compromising their confidentiality. [less ▲]

Detailed reference viewed: 234 (5 ULiège)
Full Text
See detailModulating effect of COMT genotype on the brain regions underlying proactive control process during inhibition
Jaspar, Mathieu ULiege; Genon, Sarah ULiege; Muto, Vincenzo ULiege et al

in Cortex: A Journal Devoted to the Study of the Nervous System and Behavior (2014), 50

Introduction. Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met polymorphism) has received increasing attention as a possible modulator of cognitive control functions ... [more ▼]

Introduction. Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met polymorphism) has received increasing attention as a possible modulator of cognitive control functions. Methods. In an event-related fMRI study, a modified version of the Stroop task was administered to three groups of 15 young adults according to their COMT Val158Met genotype [Val/Val (VV), Val/Met (VM) and Met/Met (MM)]. Based on the theory of dual mechanisms of control (Braver, et al., 2007), the Stroop task has been built to induce proactive or reactive control processes according to the task context. Results. Behavioral results did not show any significant group differences for reaction times but Val allele carriers individuals are less accurate in the processing of incongruent items. fMRI results revealed that proactive control is specifically associated with increased activity in the anterior cingulate cortex (ACC) in carriers of the Met allele, while increased activity is observed in the middle frontal gyrus (MFG) in carriers of the Val allele. Conclusion. These observations, in keeping with a higher cortical dopamine level in MM individuals, support the hypothesis of a COMT Val158Met genotype modulation of the brain regions underlying proactive control, especially in frontal areas as suggested by Braver et al. [less ▲]

Detailed reference viewed: 130 (35 ULiège)
Full Text
See detailArray-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
Uwineza, Annette; CABERG, Jean-Hubert ULiege; Hitayezu, Janvier et al

in BMC Medical Genetics (2014), 15(1), 79

BACKGROUND: Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development ... [more ▼]

BACKGROUND: Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. METHODS: Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform. RESULTS: Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. CONCLUSION: This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries. [less ▲]

Detailed reference viewed: 42 (13 ULiège)
Full Text
See detailAltered white matter architecture in BDNF Met carriers
Ziegler, Erik ULiege; Foret, Ariane; Mascetti, Laura ULiege et al

in PLoS ONE (2013)

Brain-derived neurotrophic factor (BDNF) modulates the pruning of synaptically-silent axonal arbors. The Met allele of the BDNF gene is associated with a reduction in the neurotrophin's activity-dependent ... [more ▼]

Brain-derived neurotrophic factor (BDNF) modulates the pruning of synaptically-silent axonal arbors. The Met allele of the BDNF gene is associated with a reduction in the neurotrophin's activity-dependent release. We used di ffusion-weighted imaging to construct structural brain networks for 36 healthy subjects with known BDNF genotypes. Through permutation testing we discovered clear di fferences in connection strength between subjects carrying the Met allele and those homozygotic for the Val allele. We trained a Gaussian process classi fier capable of identifying the subjects' allelic group with 86% accuracy and high predictive value. In Met carriers structural connectivity was greatly increased throughout the forebrain, particularly in connections corresponding to the anterior and superior corona radiata as well as corticothalamic and corticospinal projections from the sensorimotor, premotor and prefrontal portions of the internal capsule. Interhemispheric connectivity was also increased via the corpus callosum and anterior commissure, and extremely high connectivity values were found between inferior medial frontal polar regions via the anterior forceps. We propose that the decreased availability of BDNF leads to de cifits in axonal maintenance in carriers of the Met allele, and that this produces mesoscale changes in white matter architecture. [less ▲]

Detailed reference viewed: 116 (21 ULiège)
Full Text
See detailConnectome-based classification of BDNF Met allele carriers
Phillips, Christophe ULiege; Foret, Ariane; Mascetti, Laura et al

Conference (2013, June 19)

Detailed reference viewed: 32 (11 ULiège)