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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
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8. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Author

Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, and Calvas, Patrick

Published
2014
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18. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Author

El Chehadeh, S., primary, Touraine, R., additional, Prieur, F., additional, Reardon, W., additional, Bienvenu, T., additional, Chantot-Bastaraud, S., additional, Doco-Fenzy, M., additional, Landais, E., additional, Philippe, C., additional, Marle, N., additional, Callier, P., additional, Mosca-Boidron, A.-L., additional, Mugneret, F., additional, Le Meur, N., additional, Goldenberg, A., additional, Guerrot, A.-M., additional, Chambon, P., additional, Satre, V., additional, Coutton, C., additional, Jouk, P.-S., additional, Devillard, F., additional, Dieterich, K., additional, Afenjar, A., additional, Burglen, L., additional, Moutard, M.-L., additional, Addor, M.-C., additional, Lebon, S., additional, Martinet, D., additional, Alessandri, J.-L., additional, Doray, B., additional, Miguet, M., additional, Devys, D., additional, Saugier-Veber, P., additional, Drunat, S., additional, Aral, B., additional, Kremer, V., additional, Rondeau, S., additional, Tabet, A.-C., additional, Thevenon, J., additional, Thauvin-Robinet, C., additional, Perreton, N., additional, Des Portes, V., additional, and Faivre, L., additional

Published
2017
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19. The recurrence of negatively reinforced responding of humans

Author

Alessandri, J. (Jerome), Lattal, K.A. (Kennon A), Cançado, C.R.X. (Carlos R X), Université de Lille, CNRS, CHU Lille, Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab], West Virginia University [Morgantown], and Universidade de Brasilia [Brasília] [UnB]

Subjects
Adolescent, Adult, Escape Reaction, Extinction, Psychological, Female, Humans, Male, Muscle Contraction, Muscle Strength, Psychomotor Performance, Recurrence, Reinforcement Schedule, Reinforcement, Psychology, Young Adult, humans, key pressing, negative reinforcement, reinstatement, renewal, resurgence, timeout from force requirement
Abstract

The recurrence of negatively reinforced responding of humans was studied in three experiments. In each experiment during Baseline, key-pressing produced 3-s timeouts from a requirement to exert finger pressure on a force cell according to variable- or fixed-ratio schedules of reinforcement. In Experiment 1, resurgence was studied by arranging a differential-reinforcement-of-other-behavior schedule in the second phase, and extinction in the Test phase. In Experiment 2, ABA renewal was studied by extinguishing responding in the second phase in a different context and, in the Test phase, by presenting the Baseline-phase context when extinction still was in effect. In Experiment 3, reinstatement was studied by arranging extinction in the second phase, followed by the delivery of response-independent timeouts in the Test phase. Resurgence and renewal occurred consistently for each participant in Experiments 1 and 2, respectively. In Experiment 3, reinstatement was observed less consistently in four participants. The results of these experiments replicate and extend to negatively reinforced responding previous findings of the resurgence and renewal of positively reinforced responding obtained mainly with nonhuman animals. 104;3

Published
2015

22. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Barrter syndrome : evidence for genetic heterogeneity

Author

Károlyi, L., Konrad, M., Köckerling, A., Ziegler, A., Zimmermann, D.K., Roth, B., Wieg, C., Grzeschik, K.H., Koch, M.C., Seyberth, H.W., Vargas, R., Forestier, C., Jean, G., Deschaux, M., Rizzoni, G.F., Niaudet, P., Antignac, C., Feldmann, D., Lorridon, F., Cougoureux, E., Laroze, F., Alessandri, J.-L., David, L., Saunier, P., Deschenes, G., Hildebrandt, F., Vollmer, M., Proesmans, W., Brandis, M., Heuvel, L.P.W.J. van den, Lemmink, H.H., Nillesen, W., Monnens, L.A.H., Knoers, N.V.A.M., Guay-Woodford, L.M., Wright, C.J., Madrigal, G., and Hebert, S.C.

Subjects
Cultured, Ion Transport, Cells, Molecular, Molecular Probe Techniques, Hospitalized, Kidney, Kidney Function Tests, Urogenital Abnormalities (Non MeSH), Basement Membrane, Urethra, Urethral Diseases, Cell Adhesion, Kidney Diseases, Endothelium, Cloning, Molecular, Child, Gram-Negative Bacterial Infections, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Child, Hospitalized, Peritoneal Dialysis, Cells, Cultured, Cloning
Abstract

Contains fulltext : 24466___.PDF (Publisher’s version ) (Open Access)

Published
1997

23. Antenatal presentation of hereditary lymphedema type I.

Author

UCL - SSS/DDUV - Institut de Duve, Boudon, E., Levy, Y., Abossolo, T., Cartault, François, Brouillard, Pascal, Vikkula, Miikka, Kieffer-Traversier, M., Ramful, D., Alessandri, J. L., UCL - SSS/DDUV - Institut de Duve, Boudon, E., Levy, Y., Abossolo, T., Cartault, François, Brouillard, Pascal, Vikkula, Miikka, Kieffer-Traversier, M., Ramful, D., and Alessandri, J. L.

Abstract

Fetal edema can present as limited subcutaneous edema, fluid accumulation in body cavities or hydrops fetalis. Hydrops fetalis is the end stage of a variety of fetal/maternal disorders and nonimmune etiology represents more than 3/4 of cases. Lymphatic dysplasia may account for a subset of patients with nonimmune and "idiopathic" hydrops fetalis, fetal chylous ascites or chylothorax. We present two unrelated patients with antenatal features of hereditary lymphedema syndrome, in whom Milroy disease was diagnosed after birth. At least, 20 genes have been identified to cause primary lymphedema, with sometimes antenatal features. Hereditary lymphedema syndrome should be considered in cases of nonimmune hydrops fetalis/fetal edema after ruling out the more common etiologies.

Published
2015

24. Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

Author

Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., Ruiz-Perez, V., Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., and Ruiz-Perez, V.

Abstract

© The Author 2015. Published by Oxford University Press. All rights reserved. Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), in three families with a clinical diagnosis of EvC but having a distinctive phenotype. To understand why WDR35 variants result in EvC, we analysed EVC, EVC2 and Smoothened (SMO) in IFT-A deficient cells. We found that the three proteins failed to localize to Wdr35 -/- cilia, but not to the cilium of the IFT retrograde motor mutant Dync2h1 -/- , indicating that IFT121 is specifically required for their entry into the ciliary compartment. Furthermore expression of Wdr35 disease cDNAs in Wdr35 -/- fibroblasts revealed that the newly identified variants lead to Hedgehog signalling defects resembling those of Evc -/- and Evc2 -/- mutants. Together our data indicate that splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of EvC cases by disrupting targeting of both the EvC complex and SMO to cilia.

Published
2015

25. Management of neonatal spontaneous intestinal perforation by peritoneal needle aspiration

Author

Gébus, M, Michel, J-L, Samperiz, S, Harper, L, Alessandri, J-L, and Ramful, D

Abstract

Objective:To describe conservative management of spontaneous intestinal perforation (SIP) in preterm infants using peritoneal needle aspiration (PNA).Study design:Monocentric retrospective review of SIP cases treated primarily by PNA between 1999 and 2015 (n=31).Results:Mean gestational age was 29.2±2.4 weeks and birthweight 1149±428 g. SIP occurred at 3.7±2.2 days of life. PNA achieved definitive treatment in 18 patients (60%) with a mean of 1.8 (±0.8) procedures. All patients requiring more than three PNAs had secondary laparotomy. Two patients died and five presented severe cerebral lesions. Full enteral feeding was achieved 42±18 days after SIP. Intestinal morbidity included cholestasis (n=6), intestinal stricture (n=1) and growth restriction (n=22). On follow-up (n=25, median=4 years), no severe impairment was noted. Seventeen children (68%) had a normal development.Conclusion:PNA as primary therapy for SIP is a viable option, resulting in definitive treatment in 60% of cases, with limited mortality and morbidity.

Published
2018
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26. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Author

Chassaing, N., primary, Causse, A., additional, Vigouroux, A., additional, Delahaye, A., additional, Alessandri, J.‐L., additional, Boespflug‐Tanguy, O., additional, Boute‐Benejean, O., additional, Dollfus, H., additional, Duban‐Bedu, B., additional, Gilbert‐Dussardier, B., additional, Giuliano, F., additional, Gonzales, M., additional, Holder‐Espinasse, M., additional, Isidor, B., additional, Jacquemont, M.‐L., additional, Lacombe, D., additional, Martin‐Coignard, D., additional, Mathieu‐Dramard, M., additional, Odent, S., additional, Picone, O., additional, Pinson, L., additional, Quelin, C., additional, Sigaudy, S., additional, Toutain, A., additional, Thauvin‐Robinet, C., additional, Kaplan, Josseline, additional, and Calvas, Patrick, additional

Published
2013
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31. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

Author

Passemard, S., primary, Titomanlio, L., additional, Elmaleh, M., additional, Afenjar, A., additional, Alessandri, J. -L., additional, Andria, G., additional, de Villemeur, T. B., additional, Boespflug-Tanguy, O., additional, Burglen, L., additional, Del Giudice, E., additional, Guimiot, F., additional, Hyon, C., additional, Isidor, B., additional, Megarbane, A., additional, Moog, U., additional, Odent, S., additional, Hernandez, K., additional, Pouvreau, N., additional, Scala, I., additional, Schaer, M., additional, Gressens, P., additional, Gerard, B., additional, and Verloes, A., additional

Published
2009
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38. La coqueluche maligne du petit nourrisson

Author

Pilorget, H, primary, Montbrun, A, additional, Attali, T, additional, Tiran-Rajaofera, I, additional, Bony, C, additional, Brayer, C, additional, Sampériz, S, additional, and Alessandri, J.-L, additional

Published
2003
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43. Bruck Syndrome: Second Antenatal Diagnosis.

Author

Cuillier, F., Alessandri, J. L., Lemaire, P., Fritel, X., and Harper, L.

Subjects
*PRENATAL diagnosis, *OSTEOGENESIS imperfecta, *ARTHROGRYPOSIS, *OSTEOPOROSIS, *SCOLIOSIS
Abstract

Bruck syndrome is characterized by the association of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder associated with normal collagen I. The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures. We describe a French girl who was born with ankle and wrist contractures (second antenatal discovery). Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2007
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45. Incorporation of docosahexaenoic acid into nerve membrane phospholipids: bridging the gap between animals and cultured cells [corrected] [published erratum appears in AM J CLIN NUTR 2004 Feb;79(2):343].

Author

Alessandri J, Poumès-Ballihaut C, Langelier B, Perruchot M, Raguénez G, Lavialle M, and Guesnet P

Abstract

BACKGROUND: Functional maturation of nervous tissues depends on membrane accretion of docosahexaenoic acid (DHA). Animal studies have shown that incorporation of dietary DHA into membrane phospholipids is dose dependent. The molecular effects of DHA are commonly studied in cultured cells, but questions remain about the physiologic connection between animal and cell models. OBJECTIVE: We developed a linear model for comparing the responses of rat nervous tissues to dietary DHA with the responses of human cell lines to DHA in medium. DESIGN: Rats were rendered chronically deficient in n-3 fatty acids by being reared on a peanut oil diet. DHA status was replenished in the F2 generation by using increasing supplements of a microalgal oil. Human retinoblastoma and neuroblastoma cells were dosed with unesterified DHA. DHA accumulation into phospholipids was defined by the plateau of the dose-response curve (DHA(max)) and by the supplement required to produce one-half the DHA(max) (DHA(50)). RESULTS: The DHA(max) values for 4 brain regions and 2 neuroblastoma lines were similar, and the value for the retinoblastoma line was similar to the retinal value. Expressing the DHA input as micro mol/10 g diet and as micro mol/L medium resulted in similar values for the ratio of DHA(max) to DHA(50) in the 4 brain regions and the 3 cell lines. The DHA(max)-DHA(50) ratios in the ethanolamine phosphoglyceride and phosphatidylcholine fractions in retinal phospholipids were 6 and 10 times, respectively, those in the brain and cultured cells. CONCLUSIONS: The dose-dependent responses of cells and the brain to DHA supplements can be compared by using DHA(max)-DHA(50) ratios. We propose a counting frame that allows the comparison of the dose responses of the brain and cells to exogenous DHA. Copyright © 2003 American Society for Clinical Nutrition [ABSTRACT FROM AUTHOR]

Published
2003
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46. Glucose transport and utilization are altered in the brain of rats deficient in n-3 polyunsaturated fatty acids.

Author

Ximenes da Silva, A., Lavialle, F., Gendrot, G., Guesnet, P., Alessandri, J-M., and Lavialle, M.

Subjects
UNSATURATED fatty acids, DOCOSAHEXAENOIC acid, ENERGY metabolism
Abstract

Long-chain polyunsaturated (n-3) fatty acids have been reported to influence the efficiency of membrane receptors, transporters and enzymes. Because the brain is particularly rich in docosahexaenoic acid (DHA, 22:6 n-3), the present study addresses the question of whether the 22:6 n-3 fatty acid deficiency induces disorder in regulation of energy metabolism in the CNS. Three brain regions that share a high rate of energy metabolism were studied: fronto-parietal cortex, hippocampus and suprachiasmatic nucleus. The effect of the diet deficient in n-3 fatty acids resulted in a 30-50% decrease in DHA in membrane phospholipids. Moreover, a 30% decrease in glucose uptake and a 20-40% decrease in cytochrome oxidase activity were observed in the three brain regions. The n-3 deficient diet also altered the immunoreactivity of glucose transporters, namely GLUT1 in endothelial cells and GLUT3 in neurones. In n-3 fatty acid deficient rats, GLUT1-immunoreactivity readily detectable in microvessels became sparse, whereas the number of GLUT3 immunoreactive neurones was increased. However, western blot analysis showed no significant difference in GLUT1 and GLUT3 protein levels between rats deficient in n-3 fatty acids and control rats. The present results suggest that changes in energy metabolism induced by n-3 deficiency could result from functional alteration in glucose transporters. [ABSTRACT FROM AUTHOR]

Published
2002
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48. DietInduced Alterations of Lipids During Cell Differentiation in the Small Intestine of Growing Rats

Author

Alessandri, J. -M., Arfi, T. S., Thevenoux, J., and Léger, C. L.

Abstract

The lipid components of columnar cells harvested from rat small intestine were analyzed at each step of cell maturation. The effect of dietary lipids on the evolution of lipids in differentiating cells was studied using two diets representative either of a control or of an essential polyunsaturated fatty acid deficient lipid supply. Two groups of weanling rats were fed a semisynthetic diet composed of corn oil (control diet) or hydrogenated coconut oil (deficient diet) for 11 weeks. Intestinal cells were extracted according to their position along the villus column. Linoleic and arachidonic acids constitutive of cell phospholipids increased as cells migrated from the lower to the mid-part of the crypt-villus axis only with the control diet. This gradient disappeared after a 3-week feeding period with hydrogenated coconut oil diet so that columnar cells of essential fatty acid deficient rats exhibited the same overall fatty acid composition all along the crypt-villus axis. Essential fatty acid deficiency resulted in an increase of both the triene to tetraene and arachidonic acid to linoleic acid weight ratios regardless of the maturational step of cells. As compared to the control diet, the essential fatty acid deficient diet induced a decrease of both the cholesterol and free fatty acid to phos-pholipid molar ratios only in lower villus cells. We conclude that (a) progressive compositional modifications of lipids occur while ascending the crypt-villus axis and (b) essential fatty acid deficiency induces substantial alterations of the lipid evolution normally linked to cell differentiation.

Published
1990

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