20 results on '"Jouret, Guillaume"'
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2. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
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Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C., Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M., Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, and Van Esch, Hilde
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- 2023
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3. Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
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Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, and Doco Fenzy, Martine
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- 2022
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4. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
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Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, and Lecoquierre, François
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- 2022
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5. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
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Cospain, Auriane, primary, Rivera-Barahona, Ana, additional, Dumontet, Erwan, additional, Gener, Blanca, additional, Bailleul-Forestier, Isabelle, additional, Meyts, Isabelle, additional, Jouret, Guillaume, additional, Isidor, Bertrand, additional, Brewer, Carole, additional, Wuyts, Wim, additional, Moens, Leen, additional, Delafontaine, Selket, additional, Keung Lam, Wayne Wing, additional, Van Den Bogaert, Kris, additional, Boogaerts, Anneleen, additional, Scalais, Emmanuel, additional, Besnard, Thomas, additional, Cogne, Benjamin, additional, Guissard, Christophe, additional, Rollier, Paul, additional, Carre, Wilfrid, additional, Bouvet, Regis, additional, Tarte, Karin, additional, Gómez-Carmona, Ricardo, additional, Lapunzina, Pablo, additional, Odent, Sylvie, additional, Faoucher, Marie, additional, Dubourg, Christele, additional, Ruiz-Pérez, Víctor L., additional, Devriendt, Koen, additional, Pasquier, Laurent, additional, and Pérez-Jurado, Luis A., additional
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- 2022
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6. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
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Jacquin, Clémence, primary, Landais, Emilie, additional, Poirsier, Céline, additional, Afenjar, Alexandra, additional, Akhavi, Ahmad, additional, Bednarek, Nathalie, additional, Bénech, Caroline, additional, Bonnard, Adeline, additional, Bosquet, Damien, additional, Burglen, Lydie, additional, Callier, Patrick, additional, Chantot‐Bastaraud, Sandra, additional, Coubes, Christine, additional, Coutton, Charles, additional, Delobel, Bruno, additional, Descharmes, Margaux, additional, Dupont, Jean‐Michel, additional, Gatinois, Vincent, additional, Gruchy, Nicolas, additional, Guterman, Sarah, additional, Heddar, Abdelkader, additional, Herissant, Lucas, additional, Heron, Delphine, additional, Isidor, Bertrand, additional, Jaeger, Pauline, additional, Jouret, Guillaume, additional, Keren, Boris, additional, Kuentz, Paul, additional, Le Caignec, Cedric, additional, Levy, Jonathan, additional, Lopez, Nathalie, additional, Manssens, Zoe, additional, Martin‐Coignard, Dominique, additional, Marey, Isabelle, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Pebrel‐Richard, Céline, additional, Pinson, Lucile, additional, Puechberty, Jacques, additional, Redon, Sylvia, additional, Sanlaville, Damien, additional, Spodenkiewicz, Marta, additional, Tabet, Anne‐Claude, additional, Verloes, Alain, additional, Vieville, Gaelle, additional, Yardin, Catherine, additional, Vialard, François, additional, and Doco‐Fenzy, Martine, additional
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- 2022
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7. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
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Jouret, Guillaume, primary, Egloff, Matthieu, additional, Landais, Emilie, additional, Tassy, Olivier, additional, Giuliano, Fabienne, additional, Karmous‐Benailly, Houda, additional, Coutton, Charles, additional, Satre, Véronique, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vieville, Gaëlle, additional, Kuentz, Paul, additional, le Caignec, Cédric, additional, Beneteau, Claire, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Callier, Patrick, additional, Marquet, Valentine, additional, Bieth, Eric, additional, Lévy, Jonathan, additional, Tabet, Anne‐Claude, additional, Lyonnet, Stanislas, additional, Baujat, Geneviève, additional, Rio, Marlène, additional, Cartault, François, additional, Scheidecker, Sophie, additional, Gouronc, Aurélie, additional, Schalk, Audrey, additional, Jacquin, Clémence, additional, Spodenkiewicz, Marta, additional, Angélini, Chloé, additional, Pennamen, Perrine, additional, Rooryck, Caroline, additional, Doco‐Fenzy, Martine, additional, and Poirsier, Céline, additional
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- 2022
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8. Natural history of KBG syndrome in a large European cohort
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Loberti, Lorenzo, primary, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Doddato, Gabriella, additional, Resciniti, Sara, additional, Fava, Francesca, additional, Carullo, Michele, additional, Rahikkala, Elisa, additional, Jouret, Guillaume, additional, Menke, Leonie A, additional, Lederer, Damien, additional, Vrielynck, Pascal, additional, Ryba, Lukáš, additional, Brunetti-Pierri, Nicola, additional, Lasa-Aranzasti, Amaia, additional, Cueto-González, Anna Maria, additional, Trujillano, Laura, additional, Valenzuela, Irene, additional, Tizzano, Eduardo F, additional, Spinelli, Alessandro Mauro, additional, Bruno, Irene, additional, Currò, Aurora, additional, Stanzial, Franco, additional, Benedicenti, Francesco, additional, Lopergolo, Diego, additional, Santorelli, Filippo Maria, additional, Aristidou, Constantia, additional, Tanteles, George A, additional, Maystadt, Isabelle, additional, Tkemaladze, Tinatin, additional, Reimand, Tiia, additional, Lokke, Helen, additional, Õunap, Katrin, additional, Haanpää, Maria K, additional, Holubová, Andrea, additional, Zoubková, Veronika, additional, Schwarz, Martin, additional, Žordania, Riina, additional, Muru, Kai, additional, Roht, Laura, additional, Tihveräinen, Annika, additional, Teek, Rita, additional, Thomson, Ulvi, additional, Atallah, Isis, additional, Superti-Furga, Andrea, additional, Buoni, Sabrina, additional, Canitano, Roberto, additional, Scandurra, Valeria, additional, Rossetti, Annalisa, additional, Grosso, Salvatore, additional, Battini, Roberta, additional, Baldassarri, Margherita, additional, Mencarelli, Maria Antonietta, additional, Rizzo, Caterina Lo, additional, Bruttini, Mirella, additional, Mari, Francesca, additional, Ariani, Francesca, additional, Renieri, Alessandra, additional, and Pinto, Anna Maria, additional
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- 2022
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9. Natural history of KBG syndrome in a large European cohort
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Loberti, L, Bruno, L, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A, Trujillano, L, Valenzuela, I, Tizzano, E, Spinelli, A, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F, Aristidou, C, Tanteles, G, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Isis, A, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M, Rizzo, C, Bruttini, M, Mari, F, Ariani, F, Renieri, A, Pinto, A, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria, Loberti, L, Bruno, L, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A, Trujillano, L, Valenzuela, I, Tizzano, E, Spinelli, A, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F, Aristidou, C, Tanteles, G, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Isis, A, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M, Rizzo, C, Bruttini, M, Mari, F, Ariani, F, Renieri, A, Pinto, A, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, and Pinto, Anna Maria
- Abstract
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: −0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.
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- 2022
10. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
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Generalitat de Catalunya, Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Wing Keung Lam, Wayne, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Victor L., Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis Alberto, Generalitat de Catalunya, Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Wing Keung Lam, Wayne, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Victor L., Devriendt, Koen, Pasquier, Laurent, and Pérez-Jurado, Luis Alberto
- Abstract
[Purpose]: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex., [Methods]: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability., [Results]: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed., [Conclusion]: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology.
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- 2022
11. Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study
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Jouret, Guillaume, primary, Heide, Solveig, additional, Sorlin, Arthur, additional, Faivre, Laurence, additional, Chantot‐Bastaraud, Sandra, additional, Beneteau, Claire, additional, Denis‐Musquer, Marie, additional, Turnpenny, Peter D., additional, Coutton, Charles, additional, Vieville, Gaëlle, additional, Thevenon, Julien, additional, Larson, Austin, additional, Petit, Florence, additional, Boudry, Elise, additional, Smol, Thomas, additional, Delobel, Bruno, additional, Duban‐Bedu, Bénédicte, additional, Fallerini, Chiara, additional, Mari, Francesca, additional, Lo Rizzo, Caterina, additional, Renieri, Alessandra, additional, Caberg, Jean‐Hubert, additional, Denommé‐Pichon, Anne‐Sophie, additional, Tran Mau‐Them, Frédéric, additional, Maystadt, Isabelle, additional, Courtin, Thomas, additional, Keren, Boris, additional, Mouthon, Linda, additional, Charles, Perrine, additional, Cuinat, Silvestre, additional, Isidor, Bertrand, additional, Theis, Philippe, additional, Müller, Christian, additional, Kulisic, Marizela, additional, Türkmen, Seval, additional, Stieber, Daniel, additional, Bourgeois, Dominique, additional, Scalais, Emmanuel, additional, and Klink, Barbara, additional
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- 2022
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12. Additional file 1 of Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
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Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre Fran��ois, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Am��lie, and Doco Fenzy, Martine
- Abstract
Additional file 1: Supplementary Table 1. Characteristics of the 1,321 genes that have been specifically analyzed in the WES data, according to the phenotypes of the patient.
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- 2022
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13. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
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Jouret, Guillaume, Egloff, Matthieu, Landais, Emilie, Tassy, Olivier, Giuliano, Fabienne, Karmous‐Benailly, Houda, Coutton, Charles, Satre, Véronique, Devillard, Françoise, Dieterich, Klaus, Vieville, Gaëlle, Kuentz, Paul, le Caignec, Cédric, Beneteau, Claire, Isidor, Bertrand, Nizon, Mathilde, Callier, Patrick, Marquet, Valentine, Bieth, Eric, and Lévy, Jonathan
- Abstract
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microcephaly, psychomotor delay and dysmorphic features. The aim of our study was to better characterize the syndrome associated with duplications in the proximal 19p13.3 region (prox 19p13.3 dup), and to propose a comprehensive analysis of the underlying genomic mechanism. We report the largest cohort of patients with prox 19p13.3 dup through a collaborative study. We collected 24 new patients with terminal or interstitial 19p13.3 duplication characterized by array‐based Comparative Genomic Hybridization (aCGH). We performed mapping, phenotype–genotype correlations analysis, critical region delineation and explored three‐dimensional chromatin interactions by analyzing Topologically Associating Domains (TADs). We define a new 377 kb critical region (CR 1) in chr19: 3,116,922–3,494,377, GRCh37, different from the previously described critical region (CR 2). The new 377 kb CR 1 includes a TAD boundary and two enhancers whose common target is PIAS4. We hypothesize that duplications of CR 1 are responsible for tridimensional structural abnormalities by TAD disruption and misregulation of genes essentials for the control of head circumference during development, by breaking down the interactions between enhancers and the corresponding targeted gene. [ABSTRACT FROM AUTHOR]
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- 2023
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14. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
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Coursimault, Juliette, primary, Guerrot, Anne-Marie, additional, Morrow, Michelle M., additional, Schramm, Catherine, additional, Zamora, Francisca Millan, additional, Shanmugham, Anita, additional, Liu, Shuxi, additional, Zou, Fanggeng, additional, Bilan, Frédéric, additional, Le Guyader, Gwenaël, additional, Bruel, Ange-Line, additional, Denommé-Pichon, Anne-Sophie, additional, Faivre, Laurence, additional, Tran Mau-Them, Frédéric, additional, Tessarech, Marine, additional, Colin, Estelle, additional, El Chehadeh, Salima, additional, Gérard, Bénédicte, additional, Schaefer, Elise, additional, Cogne, Benjamin, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Doummar, Diane, additional, Valence, Stéphanie, additional, Héron, Delphine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Alaix, Anne-Sophie, additional, Amiel, Jeanne, additional, Colleaux, Laurence, additional, Munnich, Arnold, additional, Poirier, Karine, additional, Rio, Marlène, additional, Rondeau, Sophie, additional, Barcia, Giulia, additional, Callewaert, Bert, additional, Dheedene, Annelies, additional, Kumps, Candy, additional, Vergult, Sarah, additional, Menten, Björn, additional, Chung, Wendy K., additional, Hernan, Rebecca, additional, Larson, Austin, additional, Nori, Kelly, additional, Stewart, Sarah, additional, Wheless, James, additional, Kresge, Christina, additional, Pletcher, Beth A., additional, Caumes, Roseline, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Coubes, Christine, additional, Helm, Margaret, additional, Smith, Rosemarie, additional, Morrison, Jennifer, additional, Wheeler, Patricia G., additional, Kritzer, Amy, additional, Jouret, Guillaume, additional, Afenjar, Alexandra, additional, Deleuze, Jean-François, additional, Olaso, Robert, additional, Boland, Anne, additional, Poitou, Christine, additional, Frebourg, Thierry, additional, Houdayer, Claude, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, and Lecoquierre, François, additional
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- 2021
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15. FOSL2truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
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Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor L., Devriendt, Koen, Pasquier, Laurent, and Pérez-Jurado, Luis A.
- Abstract
We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.
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- 2022
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16. Clinical Genetics of Prolidase Deficiency: An Updated Review
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Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie, SFR CAP Santé (Champagne-Ardenne Picardie Santé), Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV), Equipe OUTRE-MER (IPSOM) (U1178 Inserm), Santé mentale et santé publique (SMSP - U1178), and Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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lcsh:Biology (General) ,systematic review ,PEPD gene ,[SDV]Life Sciences [q-bio] ,prolidase deficiency ,Review ,lcsh:QH301-705.5 - Abstract
International audience; Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data and research studies over prolidase deficiency. The aim of this study is to summarize the actual state of the art from the descriptions of all the patients with a molecular diagnosis of prolidase deficiency reported to date regarding the clinical, biological, histopathological features, therapeutic options and functional studies.
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- 2020
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17. Genetics of Usher Syndrome: New Insights From a Meta-analysis
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Jouret, Guillaume, primary, Poirsier, Céline, additional, Spodenkiewicz, Marta, additional, Jaquin, Clémence, additional, Gouy, Evan, additional, Arndt, Carl, additional, Labrousse, Marc, additional, Gaillard, Dominique, additional, Doco-Fenzy, Martine, additional, and Lebre, Anne-Sophie, additional
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- 2019
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18. Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders
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Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Björn, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphné, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Désirée, Donge, Mylène, Deb, Wallid, De La Rosa Poueriet, Katlin A., Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, and Jamra, Rami Abou
- Abstract
Heterozygous pathogenic variants in NTRK2(HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation
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- 2024
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19. Natural history of KBG syndrome in a large European cohort
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Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, and Pediatrics
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Genetics ,General Medicine ,Molecular Biology ,Genetics (clinical) - Abstract
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: −0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.
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- 2022
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20. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
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Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, and Doco-Fenzy M
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- Humans, Chromosomes, Human, Pair 1, Muscle Hypotonia, Chromosome Deletion, Phenotype, Down Syndrome, DiGeorge Syndrome, Intellectual Disability, Microcephaly, Epilepsy
- Abstract
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
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- 2023
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