29 results on '"Morel, Godelieve"'
Search Results
2. Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
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Chesneau, Bertrand, Ivashchenko, Véronique, Habib, Christophe, Gaston, Véronique, Escudié, Fréderic, Morel, Godelieve, Capri, Yline, Vincent-Delorme, Catherine, Calvas, Patrick, Chassaing, Nicolas, and Plaisancié, Julie
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- 2023
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3. STAC3 related congenital myopathy: A case series of seven Comorian patients
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Gromand, Marie, Gueguen, Paul, Pervillé, Anne, Ferroul, Fanny, Morel, Godelieve, Harouna, Anrifati, Doray, Bérénice, Urtizberea, J. Andoni, Alessandri, Jean-Luc, and Robin, Stéphanie
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- 2022
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4. Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
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Chesneau, Bertrand, Ivashchenko, Véronique, Habib, Christophe, Gaston, Véronique, Escudié, Fréderic, Morel, Godelieve, Capri, Yline, Vincent-Delorme, Catherine, Calvas, Patrick, Chassaing, Nicolas, and Plaisancié, Julie
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- 2023
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5. Growth charts in Cockayne syndrome type 1 and type 2
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Baer, Sarah, Tuzin, Nicolas, Kang, Peter B., Mohammed, Shehla, Kubota, Masaya, van Ierland, Yvette, Busa, Tiffany, Rossi, Massimiliano, Morel, Godelieve, Michot, Caroline, Baujat, Geneviève, Durand, Myriam, Obringer, Cathy, Le May, Nicolas, Calmels, Nadège, and Laugel, Vincent
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- 2021
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6. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
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Thauvin‐Robinet, Christel, Garde, Aurore, Delanne, Julian, Racine, Caroline, Rousseau, Thierry, Simon, Emmanuel, François, Michel, Moutton, Sebastien, Sylvie, Odent, Quelin, Chloe, Morel, Godelieve, Goldenberg, Alice, Guerrot, Anne‐Marie, Vera, Gabriella, Gruchy, Nicolas, Colson, Cindy, Boute, Odile, Abel, Carine, Putoux, Audrey, and Amiel, Jeanne
- Abstract
Objective: Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). However, interpretation remains challenging due to the limited prenatal data for genetic disorders. Method: We conducted an ancillary study including fetuses with pathogenic/likely pathogenic variants identified by trio‐pES from the "AnDDI‐Prenatome" study. The prenatal phenotype of each patient was categorized as typical, uncommon, or unreported based on the comparison of the prenatal findings with documented findings in the literature and public phenotype‐genotype databases (ClinVar, HGMD, OMIM, and Decipher). Results: Prenatal phenotypes were typical for 38/56 fetuses (67.9%). For the others, genotype‐phenotype associations were challenging due to uncommon prenatal features (absence of recurrent hallmark, rare, or unreported). We report the first prenatal features associated with LINS1 and PGM1 variants. In addition, a double diagnosis was identified in three fetuses. Conclusion: Standardizing the description of prenatal features, implementing longitudinal prenatal follow‐up, and large‐scale collection of prenatal features are essential steps to improving pES data interpretation. Key points: What's already known about this topic? Prenatal exome sequencing detects an additional diagnosis in approximately 30% of fetuses with structural defects and normal chromosomal microarray analysis.Prenatal phenotyping may be challenging (limited examination of some organs, functional changes at birth, no intellectual or sensory information).Genetic disorders are highly heterogeneous. What does this study add? In 67.9% of cases, the association between the fetal phenotype and a relevant variant was straightforward. Conversely, it was challenging in 32.1% of cases due to unreported or uncommon prenatal findings.We reported prenatal findings associated with bi‐allelic LINS1 and PGM1 variants.Collaborative compilation of prenatal findings related to genetic disorders may lead to better understanding and identification of fetal conditions. [ABSTRACT FROM AUTHOR]
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- 2024
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7. First Description of a Large Clinical Series of Fetal Alcohol Spectrum Disorders Children and Adolescents in Reunion Island, France.
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Sennsfelder, Laëtitia, Guilly, Susie, Henkous, Sonia, Lebon, Christophe, Leruste, Sébastien, Beuvain, Pauline, Ferroul, Fanny, Benard, Stéphanie, Payet, Frédérique, Nekaa, Meissa, Bagard, Maité, Lauret, Magaly, Hoareau, Virginie, Caillier, Aurélie, Robin, Stéphanie, Lanneaux, Justine, Etchebarren, Léa, Spodenkiewicz, Michel, Alessandri, Jean-Luc, and Morel, Godelieve
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PRENATAL exposure delayed effects ,MATERNAL exposure ,ACADEMIC medical centers ,RETROSPECTIVE studies ,MOVEMENT disorders ,DESCRIPTIVE statistics ,FETAL alcohol syndrome ,MEDICAL records ,ACQUISITION of data ,SUBSTANCE abuse in pregnancy ,EARLY diagnosis ,ALCOHOL drinking ,GENETIC mutation ,POSTURAL balance ,GENETIC testing - Abstract
Background: Despite several diagnostic guidelines, Fetal Alcohol Spectrum Disorders (FASDs) remain underdiagnosed or misdiagnosed, delaying the care of these patients and support for families. Objective: This study aims to help professionals caring for these children and their families to suspect this diagnosis earlier and to provide the most appropriate follow-up. Methods: A retrospective chart review with monocentric recruitment was performed at the Genetics Unit of the University Hospital of Reunion Island. A total of 147 children and adolescents with FASDs were included. Results: Prenatal alcohol exposure was associated with paternal alcohol consumption in 42.9%, and a high rate of prematurity (33.3%) was observed. Sixty percent of children or adolescents were placed in foster families. Learning difficulties without cognitive deficits were found in 65.8% of cases (50/76). Postural control and fine motor skills disabilities were described, respectively, in 54.7% (35/64) and 72.5% (50/69) of cases. A systematic genetic assessment was carried out, identifying in these FASD patients an associated Copy Number Variation (CNVs) in 22.6% of cases. Conclusion: Children with FASDs combine significant vulnerabilities, associating exposure to alcohol during the preconception and/or the prenatal period, prematurity, complex familial and sociocultural living conditions, and a genetic anomaly in almost a quarter of cases. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K.H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, and Geneviève, David
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- 2020
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9. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
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Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, AUDEBERT-BELLANGER, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noelle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Coeslier, Anne Dieux, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, CHEHADEH, salima EL, additional, Faivre, Laurence, additional, FRADIN, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, HARZALLAH, Ines, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Horn, Xavier Le Guillou, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaetan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godelieve, additional, Marçais, Nolwenn Jean, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, PASQUIER, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quelin, Chloé, additional, Quemener, Sylvia, additional, Rama, Mélanie, additional, RIO, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, SAUGIER-VEBER, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, TOURAINE, Renaud, additional, Tran-Mau-Them, Frédéric, additional, Trimouille, Aurélien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional
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- 2023
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10. Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island
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Sennsfelder, Laëtitia, primary, Guilly, Susie, additional, Leruste, Sébastien, additional, Hoareau, Ludovic, additional, Léocadie, Willy, additional, Beuvain, Pauline, additional, Nekaa, Meïssa, additional, Bagard, Maïté, additional, Robin, Stéphanie, additional, Lanneaux, Justine, additional, Etchebarren, Léa, additional, Tallot, Marilyn, additional, Spodenkiewicz, Michel, additional, Alessandri, Jean-Luc, additional, Morel, Godelieve, additional, Blanluet, Maud, additional, Gueguen, Paul, additional, and Roy-Doray, Bérénice, additional
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- 2023
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11. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
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Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, and De Sandre-Giovannoli, Annachiara
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- 2019
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12. RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
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Morel, Godelieve, Ernest, Sylvain, Serey‐Gaut, Margaux, Jonard, Laurence, Balogoun, Abeke Ralyath, Parodi, Marine, Loundon, Natalie, Achard, Sophie, and Marlin, Sandrine
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ANIMAL models in research , *LABORATORY mice , *ANIMAL disease models , *GENES , *PATHOLOGY - Abstract
Cochleovestibular dysfunctions are rare conditions misrecognized. A homozygous pathogenic variation c.1561C > T (p.Arg521*) in RIPOR2 (RHO family interacting cell polarization regulator 2) has been identified by WES in Tunisian siblings suffering from congenital bilateral profound hearing and vestibular dysfunctions. In contrast to the vestibular areflexia observed in our patients, deaf Ripor2 KO mouse model and our zebrafish model have normal vestibular function. [ABSTRACT FROM AUTHOR]
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- 2023
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13. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
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Tran Mau-Them, Frédéric, primary, Delanne, Julian, additional, Denommé-Pichon, Anne-Sophie, additional, Safraou, Hana, additional, Bruel, Ange-Line, additional, Vitobello, Antonio, additional, Garde, Aurore, additional, Nambot, Sophie, additional, Bourgon, Nicolas, additional, Racine, Caroline, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Marle, Nathalie, additional, Rousseau, Thierry, additional, Sagot, Paul, additional, Simon, Emmanuel, additional, Vincent-Delorme, Catherine, additional, Boute, Odile, additional, Colson, Cindy, additional, Petit, Florence, additional, Legendre, Marine, additional, Naudion, Sophie, additional, Rooryck, Caroline, additional, Prouteau, Clément, additional, Colin, Estelle, additional, Guichet, Agnès, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Morel, Godelieve, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoé, additional, Quelin, Chloé, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Vera, Gabriella, additional, Goldenberg, Alice, additional, Guerrot, Anne-Marie, additional, Brehin, Anne-Claire, additional, Putoux, Audrey, additional, Attia, Jocelyne, additional, Abel, Carine, additional, Blanchet, Patricia, additional, Wells, Constance F., additional, Deiller, Caroline, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Isidor, Bertrand, additional, Amiel, Jeanne, additional, Dard, Rodolphe, additional, Godin, Manon, additional, Gruchy, Nicolas, additional, Jeanne, Médéric, additional, Schaeffer, Elise, additional, Maillard, Pierre-Yves, additional, Payet, Frédérique, additional, Jacquemont, Marie-Line, additional, Francannet, Christine, additional, Sigaudy, Sabine, additional, Bergot, Marine, additional, Tisserant, Emilie, additional, Ascencio, Marie-Laure, additional, Binquet, Christine, additional, Duffourd, Yannis, additional, Philippe, Christophe, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional
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- 2023
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14. Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
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Chesneau, Bertrand, primary, Ivashchenko, Véronique, additional, Habib, Christophe, additional, Gaston, Véronique, additional, Escudié, Fréderic, additional, Morel, Godelieve, additional, Capri, Yline, additional, Vincent-Delorme, Catherine, additional, Calvas, Patrick, additional, Chassaing, Nicolas, additional, and Plaisancié, Julie, additional
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- 2022
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15. Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
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Chesneau, Bertrand, primary, Ivashchenko, Véronique, additional, Habib, Christophe, additional, Gaston, Véronique, additional, Escudié, Fréderic, additional, Morel, Godelieve, additional, Capri, Yline, additional, Vincent-Delorme, Catherine, additional, Calvas, Patrick, additional, Chassaing, Nicolas, additional, and Plaisancié, Julie, additional
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- 2022
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16. Mosaicism detection and impact in eye development anomalies
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Plaisancié, Julie, primary, Chesneau, Bertrand, additional, Ivashchenko, Véronique, additional, Habib, Christophe, additional, Gaston, Véronique, additional, Escudié, Frédéric, additional, Morel, Godelieve, additional, Capri, Yline, additional, Vincent-Delorme, Cathrine, additional, Calvas, Patrick, additional, and Chassaing, Nicolas, additional
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- 2022
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17. Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability
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Rollier, Paul, de Montgolfier, Sandrine, Dubourg, Christèle, Carre, Wilfrid, David, Véronique, Galibert, Marie-Dominique, Quelin, Chloe, Fradin, Mélanie, Lavillaureix, Alinoe, Morel, Godelieve, Pasquier, Laurent, Odent, Sylvie, Jean-Marcais, Nolwenn, Jonchère, Laurent, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de Recherche Interdisciplinaire sur les enjeux Sociaux - sciences sociales, politique, santé (IRIS), École des hautes études en sciences sociales (EHESS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Sorbonne Paris Nord, Centre d'Investigation Clinique [Rennes] (CIC), and Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)
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[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] - Abstract
International audience; Meeting Abstract P23.046.B
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- 2022
18. First evidence ofSOX2mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
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Chesneau, Bertrand, primary, Aubert‐Mucca, Marion, additional, Fremont, Félix, additional, Pechmeja, Jacmine, additional, Soler, Vincent, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Dollfus, Hélène, additional, Kaplan, Josseline, additional, Fares‐Taie, Lucas, additional, Rozet, Jean‐Michel, additional, Busa, Tiffany, additional, Lacombe, Didier, additional, Naudion, Sophie, additional, Amiel, Jeanne, additional, Rio, Marlène, additional, Attie‐Bitach, Tania, additional, Lesage, Cécile, additional, Thouvenin, Dominique, additional, Odent, Sylvie, additional, Morel, Godelieve, additional, Vincent‐Delorme, Catherine, additional, Boute, Odile, additional, Vanlerberghe, Clémence, additional, Dieux, Anne, additional, Boussion, Simon, additional, Faivre, Laurence, additional, Pinson, Lucile, additional, Laffargue, Fanny, additional, Le Guyader, Gwenaël, additional, Le Meur, Guylène, additional, Prieur, Fabienne, additional, Lambert, Victor, additional, Laudier, Beatrice, additional, Cottereau, Edouard, additional, Ayuso, Carmen, additional, Corton‐Pérez, Marta, additional, Bouneau, Laurence, additional, Le Caignec, Cédric, additional, Gaston, Véronique, additional, Jeanton‐Scaramouche, Claire, additional, Dupin‐Deguine, Delphine, additional, Calvas, Patrick, additional, Chassaing, Nicolas, additional, and Plaisancié, Julie, additional
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- 2022
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19. Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
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Tharreau, Mylène, primary, Garde, Aurore, additional, Marlin, Sandrine, additional, Morel, Godelieve, additional, Ernest, Sylvain, additional, Nambot, Sophie, additional, Duffourd, Yannis, additional, Ternoy, Ninon, additional, Duvillard, Christian, additional, Banka, Siddharth, additional, Philippe, Christophe, additional, Thauvin‐Robinet, Christel, additional, Mau‐Them, Frederic Tran, additional, and Faivre, Laurence, additional
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- 2022
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20. CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
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Morel, Godelieve, Rouzier, Cécile, Chaussenot, Annabelle, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Genin, Emmanuelle C., Augé, Gaëlle, Chabrol, Brigitte, Pouget, Jean, Soriani, Marie Hélène, Sacconi, Sabrina, and Paquis-Flucklinger, Véronique
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- 2015
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21. Mandibular‐pelvic‐patellar syndrome is a novel PITX1 ‐related disorder due to alteration of PITX1 transactivation ability
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Morel, Godelieve, primary, Duhamel, Céline, additional, Boussion, Simon, additional, Frénois, Frédéric, additional, Lesca, Gaetan, additional, Chatron, Nicolas, additional, Labalme, Audrey, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Thevenon, Julien, additional, Faivre, Laurence, additional, Fassier, Alice, additional, Prodhomme, Olivier, additional, Escande, Fabienne, additional, Manouvrier, Sylvie, additional, Petit, Florence, additional, Geneviève, David, additional, and Rossi, Massimiliano, additional
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- 2020
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22. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
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Zereg, Elamine, primary, Chaussenot, Annabelle, additional, Morel, Godelieve, additional, Bannwarth, Sylvie, additional, Sacconi, Sabrina, additional, Soriani, Marie‐Hélène, additional, Attarian, Shahram, additional, Cano, Aline, additional, Pouget, Jean, additional, Bellance, Rémi, additional, Tranchant, Christine, additional, Lannes, Béatrice, additional, Paula, André Maues, additional, Saadi Ait‐El‐Mkadem, Samira, additional, Chafino, Bernadette, additional, Berthet, Mathieu, additional, Fragaki, Konstantina, additional, Paquis‐Flucklinger, Véronique, additional, and Rouzier, Cécile, additional
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- 2020
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23. A new recognizable syndrome caused by mutations in the PITX1 gene
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Morel, Godelieve, Université Nice Sophia Antipolis - Faculté de Médecine (UNS UFR Médecine), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), and Massimiliano Rossi
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Morphogénèse des membres ,Flessum des genoux ,Mutation faux sens ,Autosomique dominant ,Anomalie pelvienne ,Micrognathie ,Agénésie/hypoplasie patellaire ,PITX1 ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
PITX1 (OMIM 602149) is a transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported : the Liebenberg syndrome characterized by a partial “arm-to-leg transformation” (due to PITX1 ectopic expression) and a syndromic picture including clubfoot, the possible presence of right tibial hemimelia and preaxial polydactyly (due to PITX1 deletions or mutation). OBJECTIVE: To report the clinical and molecular characterization of a novel syndrome due to PITX1 mutations.RESULTS: Patient 1 presented with micrognathia, knee flessum deformity, short stature and urogenital anomalies. His mother (patient 2) showed similar skeletal abnormalities. Patient 3 presented Pierre-Robin sequence, severe knee flessum deformity and genital abnormalities. Radiological features for all of them included mandibular hypoplasia, patellar hypo/aplasia and pelvis abnormalities. Whole exome sequencing detected the PITX1 heterozygous missense mutations c.793G>T in patient 1 and 2 and c.412A>C in patient 3.DISCUSSION: The patients here reported show a novel distinct recognizable syndrome including first branchial arch, patellar and pelvic developmental abnormalities, possibly associated with short stature and male genital anomalies. Interestingly, the Pitx1-/- mouse model shows a similar phenotype. This condition could be named Mandibular-Pelvic-Patellar syndrome.MPP syndrome show a partial phenotypic overlap with the Small patella syndrome (TBX4) and the Camptomelic dysplasia (SOX9). Our study expands the spectrum of PITX1-related syndromes and suggests a common pattern of developmental abnormalities in disorders of the PITX1-TBX4-SOX9 signaling pathway.; CONTEXTE : PITX1 (OMIM 602149) est un facteur de transcription essentiel pour la morphogenèse des membres inférieurs. Deux pathologies sont associées à ce gène: le syndrome de Liebenberg secondaire à une expression ectopique de PITX1, caractérisé par une malformation des membres supérieurs et le syndrome “Pieds varus équins plus ou moins associés à une hémimélie tibiale et/ou une polydactylie préaxiale” causé par des délétions ou mutation faux-sens de PITX1. OBJECTIF : caractériser cliniquement et moléculairement un nouveau syndrome lié à des mutations faux-sens du gène PITX1.RÉSULTAT : le patient 1 présente un micrognathie, une atteinte patellaire, un retard de croissance et des anomalies génitales. Sa mère (patiente 2) présente un phénotype osseux comparable. Le patient 3 présente une séquence de Pierre Robin, un flessum sévère des genoux et des anomalies génitales. Les radiographies objectivent pour tous une atteinte du bassin. L’exome a mis en évidence la mutation faux sens c.793G>T chez les patients 1 et 2 et c.412A>C chez le patient 3 dans PITX1.DISCUSSION : ces 3 patients présentent un syndrome reconnaissable associant anomalies du développement du premier arc branchial, du bassin et des rotules avec possiblement une petite taille et chez les garçons des anomalies génitales. Ce phénotype ressemble à celui des souris KO Pitx1 -/. Nous proposons d’appeler ce syndrome le syndrome Mandibulo-Coxo-Patellaire. Le syndrome coxo-podo-patellaire (TBX4) et la dysplasie campomélique (SOX9) présentent un phénotype chevauchant. Cette étude étend le spectre des pathologies liées aux mutations de PITX1 et fait émerger la notion de pathologies de la voie PITX1-TBX4-SOX9.
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- 2019
24. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers
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Morel, Godelieve, primary, Bannwarth, Sylvie, additional, Chaussenot, Annabelle, additional, Cano, Aline, additional, Fragaki, Konstantina, additional, Ait-El-Mkadem, Samira, additional, Rouzier, Cecile, additional, De Paula, Andre Maues, additional, Chabrol, Brigitte, additional, and Paquis-Flucklinger, Veronique, additional
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- 2016
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25. CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy
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Morel, Godelieve, primary, Rouzier, Cécile, additional, Chaussenot, Annabelle, additional, Ait-El-Mkadem, Samira, additional, Bannwarth, Sylvie, additional, Genin, Emmanuelle C., additional, Augé, Gaëlle, additional, Chabrol, Brigitte, additional, Pouget, Jean, additional, Soriani, Marie Hélène, additional, Sacconi, Sabrina, additional, and Paquis-Flucklinger, Véronique, additional
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- 2015
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26. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
- Author
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Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M, Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, and Houlden H
- Abstract
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants. To define the phenotypic effects of RBL2 mutations in detail, we identified and clinically characterized a cohort of 35 patients from 20 families carrying pLOF variants in RBL2, including fifteen new variants that substantially broaden the molecular spectrum. The clinical presentation of affected individuals is characterized by a range of neurological and developmental abnormalities. Global developmental delay and intellectual disability were uniformly observed, ranging from moderate to profound and involving lack of acquisition of key motor and speech milestones in most patients. Disrupted sleep was also evident in some patients. Frequent features included postnatal microcephaly, infantile hypotonia, aggressive behaviour, stereotypic movements, seizures, and non-specific dysmorphic features. Neuroimaging features included cerebral atrophy, white matter volume loss, corpus callosum hypoplasia and cerebellar atrophy. In parallel, we used the fruit fly, Drosophila melanogaster, to investigate how disruption of the conserved RBL2 orthologue Rbf impacts nervous system function and development. We found that Drosophila Rbf LOF mutants recapitulate several features of patients harbouring RBL2 variants, including developmental delay, alterations in head and brain morphology, locomotor defects, and perturbed sleep. Surprisingly, in addition to its known role in controlling tissue growth during development, we found that continued Rbf expression is also required in fully differentiated post-mitotic neurons for normal locomotion in Drosophila, and that adult-stage neuronal re-expression of Rbf is sufficient to rescue Rbf mutant locomotor defects. Taken together, our study provides a clinical and experimental basis to understand genotype-phenotype correlations in an RBL2-linked neurodevelopmental disorder, and suggests that restoring RBL2 expression through gene therapy approaches may ameliorate some symptoms caused by RBL2 pLOF., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)
- Published
- 2024
- Full Text
- View/download PDF
27. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
- Author
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Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU, Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, and Houlden H
- Abstract
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants. To define the phenotypic effects of RBL2 mutations in detail, we identified and clinically characterized a cohort of 28 patients from 18 families carrying LOF variants in RBL2 , including fourteen new variants that substantially broaden the molecular spectrum. The clinical presentation of affected individuals is characterized by a range of neurological and developmental abnormalities. Global developmental delay and intellectual disability were uniformly observed, ranging from moderate to profound and involving lack of acquisition of key motor and speech milestones in most patients. Frequent features included postnatal microcephaly, infantile hypotonia, aggressive behaviour, stereotypic movements and non-specific dysmorphic features. Common neuroimaging features were cerebral atrophy, white matter volume loss, corpus callosum hypoplasia and cerebellar atrophy. In parallel, we used the fruit fly, Drosophila melanogaster , to investigate how disruption of the conserved RBL2 orthologueue Rbf impacts nervous system function and development. We found that Drosophila Rbf LOF mutants recapitulate several features of patients harboring RBL2 variants, including alterations in the head and brain morphology reminiscent of microcephaly, and perturbed locomotor behaviour. Surprisingly, in addition to its known role in controlling tissue growth during development, we find that continued Rbf expression is also required in fully differentiated post-mitotic neurons for normal locomotion in Drosophila , and that adult-stage neuronal re-expression of Rbf is sufficient to rescue Rbf mutant locomotor defects. Taken together, this study provides a clinical and experimental basis to understand genotype-phenotype correlations in an RBL2 -linked neurodevelopmental disorder and suggests that restoring RBL2 expression through gene therapy approaches may ameliorate aspects of RBL2 LOF patient symptoms.
- Published
- 2024
- Full Text
- View/download PDF
28. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
- Author
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Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, and Plaisancié J
- Subjects
- Anterior Eye Segment abnormalities, Comparative Genomic Hybridization, DNA Copy Number Variations genetics, Humans, Mutation genetics, SOXB1 Transcription Factors genetics, Corneal Opacity diagnosis, Corneal Opacity genetics, Corneal Opacity pathology, Eye Abnormalities diagnosis, Eye Abnormalities genetics, Eye Abnormalities pathology
- Abstract
Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development., (© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2022
- Full Text
- View/download PDF
29. A new mutation in the mitochondrial tRNA Pro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.
- Author
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Morel G, Bannwarth S, Chaussenot A, Cano A, Fragaki K, Ait-El-Mkadem S, Rouzier C, De Paula AM, Chabrol B, and Paquis-Flucklinger V
- Subjects
- Child, DNA, Mitochondrial, Humans, Male, Mitochondrial Myopathies physiopathology, Muscle, Skeletal pathology, Phenotype, Genes, Mitochondrial, Mitochondrial Myopathies genetics, Mitochondrial Myopathies pathology, Mutation, RNA, Transfer, Pro genetics
- Abstract
An 11-year-old boy with psychomotor delay, exercise intolerance, ptosis and growth delay had a muscle biopsy showing typical mitochondrial alterations (60% of ragged-red fibers and 90% of cytochrome-c oxidase-deficient fibers). Next-generation sequencing revealed a novel heteroplasmic mutation (m.15958A>T) in the MTTP gene that encodes tRNA
Pro . The mutation was not present in the accessible non-muscle tissues of the patient's asymptomatic mother. Mutations in the rarely affected MTTP gene are responsible for different clinical presentations. We report the third early-onset case associated with a mutation in this gene. The severity of myopathy is likely related to the high mutation rate (96%) found in the patient's muscle. The clinical heterogeneity associated with MTTP mutations illustrates the value of the next-generation sequencing in routine diagnosis of mitochondrial diseases., (Copyright © 2016. Published by Elsevier B.V.)- Published
- 2016
- Full Text
- View/download PDF
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