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2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
Abstract

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí

Published
2023

3. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Author

Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., and Ghoumid, Jamal

Published
2018
Full Text
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6. Investigating the influence of growth arrest mechanisms on tumour responses to radiotherapy

Author

Colson, C, Maini, PK, and Byrne, HM

Subjects
FOS: Biological sciences, Quantitative Biology - Tissues and Organs, 92B05, 92C50, Tissues and Organs (q-bio.TO)
Abstract

Cancer is a heterogeneous disease and tumours of the same type can differ greatly at the genetic and phenotypic levels. Understanding how these differences impact sensitivity to treatment is an essential step towards patient-specific treatment design. In this paper, we investigate how two different mechanisms for growth control may affect tumour cell responses to fractionated radiotherapy (RT) by extending an existing ordinary differential equation model of tumour growth. In the absence of treatment, this model distinguishes between growth arrest due to nutrient insufficiency and competition for space and exhibits three growth regimes: nutrient-limited (NL), space limited (SL) and bistable (BS), where both mechanisms for growth arrest coexist. We study the effect of RT for tumours in each regime, finding that tumours in the SL regime typically respond best to RT, while tumours in the BS regime typically respond worst to RT. For tumours in each regime, we also identify the biological processes that may explain positive and negative treatment outcomes and the dosing regimen which maximises the reduction in tumour burden., 33 pages, 22 figures

Published
2023

9. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Author

Tessadori, F., Duran, K., Knapp, K., Fellner, M., Smithson, S., Meireles, A. Beleza, Elting, M.W., Waisfisz, Q., O'Donnell-Luria, A., Nowak, C., Douglas, J., Ronan, A., Brunet, T., Kotzaeridou, U., Svihovec, S., Saenz, M.S., Thiffault, I., Viso, F. Del, Devine, P., Rego, S., Tenney, J., Haeringen, A. van, Ruivenkamp, C.A.L., Koene, S., Robertson, S.P., Deshpande, C., Pfundt, R.P., Verbeek, N., Kamp, J.M. van de, Weiss, J., Ruiz, A., Gabau, E., Banne, E., Pepler, A., Bottani, A., Laurent, S., Guipponi, M., Bijlsma, E., Bruel, A.L., Sorlin, A., Willis, M., Powis, Z., Smol, T., Vincent-Delorme, C., Baralle, D., Colin, E., Revencu, N., Calpena, E., Wilkie, A.O.M., Chopra, M., Cormier-Daire, V., Keren, B., Afenjar, A., Niceta, M., Terracciano, A., Specchio, N., Tartaglia, M., Rio, M. del, Barcia, G., Rondeau, S., Colson, C., Bakkers, J., Mace, P.D., Bicknell, L.S., Haaften, G. van, Tessadori, F., Duran, K., Knapp, K., Fellner, M., Smithson, S., Meireles, A. Beleza, Elting, M.W., Waisfisz, Q., O'Donnell-Luria, A., Nowak, C., Douglas, J., Ronan, A., Brunet, T., Kotzaeridou, U., Svihovec, S., Saenz, M.S., Thiffault, I., Viso, F. Del, Devine, P., Rego, S., Tenney, J., Haeringen, A. van, Ruivenkamp, C.A.L., Koene, S., Robertson, S.P., Deshpande, C., Pfundt, R.P., Verbeek, N., Kamp, J.M. van de, Weiss, J., Ruiz, A., Gabau, E., Banne, E., Pepler, A., Bottani, A., Laurent, S., Guipponi, M., Bijlsma, E., Bruel, A.L., Sorlin, A., Willis, M., Powis, Z., Smol, T., Vincent-Delorme, C., Baralle, D., Colin, E., Revencu, N., Calpena, E., Wilkie, A.O.M., Chopra, M., Cormier-Daire, V., Keren, B., Afenjar, A., Niceta, M., Terracciano, A., Specchio, N., Tartaglia, M., Rio, M. del, Barcia, G., Rondeau, S., Colson, C., Bakkers, J., Mace, P.D., Bicknell, L.S., and Haaften, G. van

Abstract

Contains fulltext : 252023.pdf (Publisher’s version ) (Open Access), Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as DNA replication, DNA transcription, and DNA repair in all eukaryotes. Human histone H4 is encoded by fourteen canonical histone H4 genes, all differing at the nucleotide level but encoding an invariant protein. Here, we present a cohort of 29 subjects with de novo missense variants in six H4 genes (H4C3, H4C4, H4C5, H4C6, H4C9, and H4C11) identified by whole-exome sequencing and matchmaking. All individuals present with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay, while non-neurological features are more variable. Ten amino acids are affected, six recurrently, and are all located within the H4 core or C-terminal tail. These variants cluster to specific regions of the core H4 globular domain, where protein-protein interactions occur with either other histone subunits or histone chaperones. Functional consequences of the identified variants were evaluated in zebrafish embryos, which displayed abnormal general development, defective head organs, and reduced body axis length, providing compelling evidence for the causality of the reported disorder(s). While multiple developmental syndromes have been linked to chromatin-associated factors, missense-bearing histone variants (e.g., H3 oncohistones) are only recently emerging as a major cause of pathogenicity. Our findings establish a broader involvement of H4 variants in developmental syndromes.

Published
2022

13. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Author

Guo, H, Bettella, E, Marcogliese, PC, Zhao, R, Andrews, JC, Nowakowski, TJ, Gillentine, MA, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, MH, van Bon, BW, Rinne, T, Stevens, SJC, Kleefstra, T, Brunner, HG, Yntema, HG, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, CE, Romano, C, Castiglia, L, Bottitta, M, Dhar, SU, Erwin, DJ, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Mercimek-Andrews, S, Juusola, J, Wilfert, AB, Abou Jamra, R, Buettner, B, Mefford, HC, Muir, AM, Scheffer, IE, Regan, BM, Malone, S, Gecz, J, Cobben, J, Weiss, MM, Waisfisz, Q, Bijlsma, EK, Hoffer, MJ, Ruivenkamp, CAL, Sartori, S, Xia, F, Rosenfeld, JA, Bernier, RA, Wangler, MF, Yamamoto, S, Xia, K, Stegmann, APA, Bellen, HJ, Murgia, A, Eichler, EE, Nickerson, DA, Bamshad, MJ, Guo, H, Bettella, E, Marcogliese, PC, Zhao, R, Andrews, JC, Nowakowski, TJ, Gillentine, MA, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, MH, van Bon, BW, Rinne, T, Stevens, SJC, Kleefstra, T, Brunner, HG, Yntema, HG, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, CE, Romano, C, Castiglia, L, Bottitta, M, Dhar, SU, Erwin, DJ, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Mercimek-Andrews, S, Juusola, J, Wilfert, AB, Abou Jamra, R, Buettner, B, Mefford, HC, Muir, AM, Scheffer, IE, Regan, BM, Malone, S, Gecz, J, Cobben, J, Weiss, MM, Waisfisz, Q, Bijlsma, EK, Hoffer, MJ, Ruivenkamp, CAL, Sartori, S, Xia, F, Rosenfeld, JA, Bernier, RA, Wangler, MF, Yamamoto, S, Xia, K, Stegmann, APA, Bellen, HJ, Murgia, A, Eichler, EE, Nickerson, DA, and Bamshad, MJ

Abstract

Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.

Published
2019

14. Genetic analysis and overexpression of lipolytic activity in Bacillus subtilis

Author

Dartois, V., Coppee, J.-Y., Colson, C., and Baulard, A.

Subjects
Bacillus subtilis -- Research, Biological sciences
Abstract

The Bacillus subtilis lipase gene (lip) derivative is constructed without the use of lip sequence by the application of Bacillus subtilis gene mapping on chromosomes. The subcloning of the lip open reading frame enables the performance of homologous overexpression. The expression is performed on a multicopy plasmid subjected to a gram-positive promoter.

Published
1994

16. CKD GENERAL AND CLINICAL EPIDEMIOLOGY 2

Author

Davids, M. R., Marais, N., Jacobs, J., Cohen, E., Krause, I., Goldberg, E., Garty, M., Dursun, B., Sahan, Y., Tanriverdi, H., Rota, S., Uslu, S., Senol, H., Minutolo, R., Gabbai, F. B., Agarwal, R., Chiodini, P., Borrelli, S., Stanzione, G., Nappi, F., Bellizzi, V., Conte, G., Nicola, L. D., J. V., De, Johnson, S., Fremeaux Bacchi, V., Ardissino, G., Ariceta, G., Beauchamp, J., Cohen, D., Greenbaum, L. A., Ogawa, M., Schaefer, F., Licht, C., Scalzotto, E., Nalesso, F., Zaglia, T., Corradi, V., Neri, M., Martino, F., Zanella, M., Brendolan, A., Mongillo, M., Ronco, C., Chinnappa, S., Mooney, A., A. M., El, Y. K., Tu, Tan, L. B., Jung, J. Y., Kim, A. J., Ro, H., Lee, C., Chang, J. H., Lee, H. H., Chung, W., Clarke, A. L., Young, H. M., Hull, K. L., Hudson, N., Burton, J. O., Smith, A. C., Marx, S., Petrilla, A., Filipovic, I., Lee, W. C., Meijers, B., Poesen, R., Storr, M., Claes, K., Kuypers, D., Evenepoel, P., Aukland, M., Betriu, A., Martinez Alonso, M., Arcidiacono, M. V., Cannata Andia, J., Pascual, J., Valdivielso, J. M., Fernandez Giraldez, E., Kingswood, J. C., Zonnenberg, B., Sauter, M., Zakar, G., Biro, B., Besenczi, B., Varga, A., Pekacs, P., Pizzini, P., Pisano, A., Leonardis, D., Panuccio, V., Cutrupi, S., Tripepi, G., Mallamaci, F., Zoccali, C., Arnold, J., Baharani, J., Rayner, H., B. H., So, Blackwell, S., Jardine, A. G., Macgregor, M. S., Cunha, C., Barreto, P., Pereira, S., Ventura, A., Mota, M., Seabra, J., Sakaguchi, T., Kobayashi, S., Yano, T., Yoshimoto, W., Bancu, I., Bastons, J. B., Escayola, M. C., Vallespin, E. V., Poblet, M. B., Luque, D. M., Fabregas, M. P., Chen, J., Chen, S., Chang, J., Hwang, S., Chen, H., Ahbap, E., Kara, E., Basturk, T., Sahutoglu, T., Koc, Y., Sakaci, T., Sevinc, M., Akgol, C., Ozagari, A. A., Unsal, A., Minami, S., Hesaka, A., Yamaguchi, S., Iwahashi, E., Sakai, S., Fujimoto, T., Sasaki, K., Fujita, Y., Yokoyama, K., Marks, A., Fluck, N., Prescott, G., Robertson, L., Smith, W. C., Black, C., Ohsawa, M., Fujioka, T., Omori, S., Isurugi, T., Tanno, K., Onoda, T., Omama, S., Ishibashi, Y., Makita, S., Okayama, A., Garland, J. S., Simpson, C. S., Metangi, M. F., Parfrey, B., Johri, A. M., Sloan, L., Mcauley, J., Cunningham, R., Mullan, R., Quinn, M., Harron, C., Chiu, H., Murphy Burke, D., Werb, R., Jung, B., Chan Yan, C., Duncan, J., Forzley, B., Lowry, R., Hargrove, G., Carson, R., Levin, A., Karim, M., Reznik, E. V., G. I. V., Rollino, C., Troiano, M., Bagatella, M., Liuzzo, C., Quarello, F., Roccatello, D., Blaslov, K., Bulum, T., Prkacin, I., Duvnjak, L., Heleniak, Z., Cieplinska, M., Szychlinski, T., Pryczkowska, M., Bartosinska, E., Wiatr, H., Kotlowska, H., Tylicki, L., Rutkowski, B., Song, Y. R., Kim, S. G., Kim, H. J., Noh, J. W., Tong, A., Jesudason, S., Craig, J. C., Winkelmayer, W. C., Hung, P. H., Huang, Y. T., Hsiao, C. Y., Sung, P. S., Guo, H. R., Tsai, K. J., Wu, C., Su, S., Kao, S., Lu, K., Lin, Y., Lin, W., Lee, H., Cheng, M., Wang, W., Yang, L., Wang, M., Lela, I. V., Sekoranja, M., Poljicanin, T., Karanovic, S., Abramovic, M., Matijevic, V., Stipancic, Z., Leko, N., Cvitkovic, A., Dika, Z., Kos, J., Laganovic, M., Grollman, A. P., Jelakovic, B., Dryl Rydzynska, T., Prystacki, T., Malyszko, J., Trifiro', Gianluca, Sultana, J., Giorgianni, F., Ingrasciotta, Y., Muscianisi, M., Tari, D. U., Perrotta, M., Buemi, Michele, Canale, V., Arcoraci, Vincenzo, Santoro, Domenico, Rizzo, M., Iheanacho, I., Van, F. E., Goldsmith, D., Grandtnerova, B., Beratsova, Z., Cervenˇova, M., Cˇervenˇ, J., Markech, M., Stefanikova, A., Engelen, W., Elseviers, M., Gheuens, E., Colson, C., Muyshondt, I., and Daelemans, R.

Subjects
Transplantation, medicine.medical_specialty, business.industry, urologic and male genital diseases, medicine.disease, Gastroenterology, female genital diseases and pregnancy complications, Nephrology, Internal medicine, mental disorders, Medicine, Stage (cooking), Metabolic syndrome, business, Kidney disease
Published
2014

17. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

Author

Baer, S., primary, Afenjar, A., additional, Smol, T., additional, Piton, A., additional, Gérard, B., additional, Alembik, Y., additional, Bienvenu, T., additional, Boursier, G., additional, Boute, O., additional, Colson, C., additional, Cordier, M.‐P., additional, Cormier‐Daire, V., additional, Delobel, B., additional, Doco‐Fenzy, M., additional, Duban‐Bedu, B., additional, Fradin, M., additional, Geneviève, D., additional, Goldenberg, A., additional, Grelet, M., additional, Haye, D., additional, Heron, D., additional, Isidor, B., additional, Keren, B., additional, Lacombe, D., additional, Lèbre, A.‐S., additional, Lesca, G., additional, Masurel, A., additional, Mathieu‐Dramard, M., additional, Nava, C., additional, Pasquier, L., additional, Petit, A., additional, Philip, N., additional, Piard, J., additional, Rondeau, S., additional, Saugier‐Veber, P., additional, Sukno, S., additional, Thevenon, J., additional, Van‐Gils, J., additional, Vincent‐Delorme, C., additional, Willems, M., additional, Schaefer, E., additional, and Morin, G., additional

Published
2018
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23. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management

Author

Colson, C., primary, Aubry, E., additional, Cartigny, M., additional, Rémy, A.‐A., additional, Franquet, H., additional, Leroy, X., additional, Kéchid, G., additional, Lefèvre, C., additional, Besson, R., additional, Cools, M., additional, Spinoit, A.F., additional, Sultan, C., additional, Manouvrier, S., additional, Philibert, P., additional, and Ghoumid, J., additional

Published
2017
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24. Patents And literature

Author

Limhardt, Robert J., Bahl C. P., Bell G., Picktet R., Goodman H. M., Rutter W. J., Chang S., Meade J. H., Cohen S. N., Colby C., Denney D. W., Colson C. A., Cornelis P. E., Digneffe C. S., Walon C., Crea R., Curtiss R., Dean D. H., Ellis D. M., Fayerman J. T., Richardson M. A., Foor F., Morin N. R., Roberts G. P., Goeddel D. V., Heyneker H. L., Shine J., Seeburg P. H., Hamer D. H., Gerin J., Hanisch W. H., Fernandes P. M., Hershberger C. L., Radue A. K., Rostek P. R., Rostek Paul R., Itakura K., Kikuchi M., Hayakawa T., Kida M., Konrard M. W., Lin L. S., Mark D. F., Kung H. S., Kurahashi O., Tsuchida T., Kawashima H., Enei H., Nakamoris S., Malin M. E., Jones M. D., Mabe J. A., Nakatsukasa W. M., Miller J. R., Kovacevic S., Beerman N. E., Olsen R. H., Paddok G. V., Riggs A. D., Ullrich A., Chirgwin J., Picket R., Schnepf H. E., Whiteley H. R., Shizuya H., Uhlin B. E., Nordstrom K., Molin S., Gustaffson P., Ward C. B., and Bruner R. D.

Published
1985
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26. A 38-year-old hairdresser with irritant-associated vocal cord dysfunction [Case study]

Author

Menard O, Moreau-Colson C, Christophe Paris, Mathias Poussel, Herin F, J.M. Renaudin, and Leininger A

Subjects
Pulmonary and Respiratory Medicine, Spirometry, endocrine system, medicine.diagnostic_test, business.industry, medicine.disease, Endoscopy, Specific inhalation challenge, Infectious Diseases, Anesthesia, Concomitant, medicine, Vocal cord dysfunction, Airway, business, Occupational asthma
Abstract

The present case study reports the first case of a 38-year-old hairdresser with irritant-associated vocal cord dysfunction (VCD) due to alkaline persulfate, who was referred on suspicion of occupational asthma. Several tests were performed, including specific inhalation challenge and upper airway endoscopy. During the specific inhalation challenge to alkaline persulfate, the patient experienced dysphonia and a non-significant decrease in forced expiratory volume in 1 second on spirometry. Upper airway endoscopy was then performed and revealed VCD. A specific inhalation challenge test is therefore essential in cases of VCD to exclude possible concomitant occupational asthma.

Published
2012

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