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4. S106: UBTF-ATXN7L3 GENE FUSION DUE TO 17Q21.31 DELETION DEFINES NOVEL HIGH-RISK ALL SUBTYPE AMENABLE TO MRD-BASED TREATMENT INTENSIFICATION

Author

Bastian, L., primary, Hartmann, A., additional, Beder, T., additional, Hänzelmann, S., additional, Kässens, J., additional, Bultmann, M., additional, Höppner, M. P., additional, Franzenburg, S., additional, Wittig, M., additional, Franke, A., additional, Nagel, I., additional, Spielmann, M., additional, Reimer, N., additional, Busch, H., additional, Schwartz, S., additional, Steffen, B., additional, Viardot, A., additional, Döhner, K., additional, Kondakci, M., additional, Wulf, G., additional, Wendelin, K., additional, Renzelmann, A., additional, Kiani, A., additional, Trautmann, H., additional, Neumann, M., additional, Gökbuget, N., additional, Brüggemann, M., additional, and Baldus, C., additional

Published
2022
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7. Array-CGH: Erfahrungen aus Schleswig-Holstein

Author

Caliebe, A., Platzer, K., Argyriou, L., Bens, S., Hellenbroich, Y., Husemeyer, N., Nagel, I., Martin-Subero, J.I., Sporns, P., Stefanova, I., Tönnies, H., Vater, I., Weimer, J., Siebert, R., and Gillessen-Kaesbach, G.

Published
2012
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13. Genetic alterations of SMARCA4 in atypical teratoid/rhabdoid tumours (AT/RT) are associated with higher frequency of germ line alterations and shorter survival as compared to SMARCB1 deficient AT/RT

Author

Hasselblatt, M., Schüller, U., Junckerstorff, R., Rosenblum, M. K., Alassiri, A., Rossi, S., Bartelheim, K., Schmid, I., Gottardo, N., Toledano, H., Viscardi, E., Witkowski, L., Nagel, I., Oyen, F., Foulkes, W. D., Paulus, W., Siebert, R., Schneppenheim, R., and Frühwald, Michael C.

Published
2020

15. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), and Zweier, C. (Christiane)

Subjects
Drosophila melanogaster, intellectual disability, neurodevelopmental disorders, CTCF, chromatin organization
Abstract

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. Results: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. Conclusion: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.

Published
2019

18. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Konrad, E.D.H., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G., Santoro, S.L., Shuss, C., Ziegler, A., Bonneau, D., Kempers, M.J.E., Pfundt, R.P., Legius, E., Bouman, A., Stuurman, K.E., Ounap, K., Pajusalu, S., Wojcik, M.H., Vasileiou, G., Guyader, G. Le, Schnelle, H.M., Berland, S., Zonneveld-Huijssoon, E., Kersten, S., Gupta, A., Blackburn, P.R., Ellingson, M.S., Ferber, M.J., Dhamija, R., Klee, E.W., McEntagart, M., Lichtenbelt, K.D., Kenney, A., Vergano, Samantha A., Jamra, R. Abou, Platzer, K., Pierpont, M. Ella, Khattar, D., Hopkin, R.J., Martin, R.J., Jongmans, M.C.J., Chang, V.Y., Martinez-Agosto, J.A., Kuismin, O., Kurki, M.I., Pietilainen, O., Palotie, A., Maarup, T.J., Johnson, D.S., Pedersen, K., Laulund, L.W., Lynch, S.A., Blyth, M., Prescott, K., Canham, N., Ibitoye, R., Brilstra, E.H., Shinawi, M., Fassi, E., Sticht, H., Gregor, A., Esch, H. Van, Zweier, C., Konrad, E.D.H., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G., Santoro, S.L., Shuss, C., Ziegler, A., Bonneau, D., Kempers, M.J.E., Pfundt, R.P., Legius, E., Bouman, A., Stuurman, K.E., Ounap, K., Pajusalu, S., Wojcik, M.H., Vasileiou, G., Guyader, G. Le, Schnelle, H.M., Berland, S., Zonneveld-Huijssoon, E., Kersten, S., Gupta, A., Blackburn, P.R., Ellingson, M.S., Ferber, M.J., Dhamija, R., Klee, E.W., McEntagart, M., Lichtenbelt, K.D., Kenney, A., Vergano, Samantha A., Jamra, R. Abou, Platzer, K., Pierpont, M. Ella, Khattar, D., Hopkin, R.J., Martin, R.J., Jongmans, M.C.J., Chang, V.Y., Martinez-Agosto, J.A., Kuismin, O., Kurki, M.I., Pietilainen, O., Palotie, A., Maarup, T.J., Johnson, D.S., Pedersen, K., Laulund, L.W., Lynch, S.A., Blyth, M., Prescott, K., Canham, N., Ibitoye, R., Brilstra, E.H., Shinawi, M., Fassi, E., Sticht, H., Gregor, A., Esch, H. Van, and Zweier, C.

Abstract

Contains fulltext : 215582.pdf (publisher's version ) (Open Access), PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. RESULTS: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. CONCLUSION: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.

Published
2019

19. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Konrad, E.D.H. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S.L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M.J.E. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K.E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M.H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H.M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P.R. (Patrick R.), Ellingson, M.S. (Marissa S.), Ferber, M.J. (Matthew J.), Dhamija, R. (Radhika), Klee, E.W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K.D. (Klaske), Kenney, A. (Amy), Vergano, S.A. (Samantha A.), Abou Jamra, R. (Rami), Platzer, K. (Konrad), Ella Pierpont, M. (Mary), Khattar, D. (Divya), Hopkin, R., Martin, R.J. (Richard J.), Jongmans, M.C.J. (Marjolijn), Chang, V.Y. (Vivian Y.), Martinez-Agosto, J.A. (Julian A.), Kuismin, O. (Outi), Kurki, M.I. (Mitja I.), Pietiläinen, O.P.H. (Olli), Palotie, A. (Aarno), Maarup, T.J. (Timothy J.), Johnson, D. (David), Venborg Pedersen, K. (Katja), Laulund, L.W. (Lone W.), Lynch, S.A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E.H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Sticht, H. (Heinrich), Gregor, A. (Anne), Esch, H. (Hilde) van, Zweier, C. (Christiane), Konrad, E.D.H. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S.L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M.J.E. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K.E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M.H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H.M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P.R. (Patrick R.), Ellingson, M.S. (Marissa S.), Ferber, M.J. (Matthew J.), Dhamija, R. (Radhika), Klee, E.W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K.D. (Klaske), Kenney, A. (Amy), Vergano, S.A. (Samantha A.), Abou Jamra, R. (Rami), Platzer, K. (Konrad), Ella Pierpont, M. (Mary), Khattar, D. (Divya), Hopkin, R., Martin, R.J. (Richard J.), Jongmans, M.C.J. (Marjolijn), Chang, V.Y. (Vivian Y.), Martinez-Agosto, J.A. (Julian A.), Kuismin, O. (Outi), Kurki, M.I. (Mitja I.), Pietiläinen, O.P.H. (Olli), Palotie, A. (Aarno), Maarup, T.J. (Timothy J.), Johnson, D. (David), Venborg Pedersen, K. (Katja), Laulund, L.W. (Lone W.), Lynch, S.A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E.H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Sticht, H. (Heinrich), Gregor, A. (Anne), Esch, H. (Hilde) van, and Zweier, C. (Christiane)

Abstract

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. Results: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. Conclusion: We significantly broaden the mutational and clinical spectrum of CTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.

Published
2019
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23. Adolescents’ Expectations About the Timing of Family Life Events: Unraveling the Role of Value Transmission and Modeling

Author

Keijer, M.G., Liefbroer, A.C., Nagel, I., Keijer, M.G., Liefbroer, A.C., and Nagel, I.

Abstract

Intergenerational continuity in family behaviors partly results from socialization processes in the parental home. However, socialization is a multidimensional process. This article tests hypotheses about the relative importance of value transmission and modeling in explaining expectations of adolescence concerning the timing of leaving home, and entry into cohabitation, marriage, and parenthood. Structural equation modeling on multiactor data from over 1,000 parent–adolescent child couples in the Netherlands is used to test hypotheses. Results suggest that, in general, both value transmission and modeling are important predictors of adolescents’ expectations concerning the timing of major family events. Moreover, no differences between mothers and fathers and between boys and girls are observed in the strength of the intergenerational relationships studied.

Published
2018

31. Effects of Parental Cultural and Economic Status on Adolescents’ Life Course Preferences

Author

Keijer, M.G., Nagel, I., Liefbroer, A.C., Keijer, M.G., Nagel, I., and Liefbroer, A.C.

Abstract

This article examines to what extent adolescents’ ideas about their future life course in the professional and family domain are influenced by the cultural and economic status of their parents, and to what extent these influences are mediated by parents’ own preferences for their child’s future life course and the position that the child occupies in the educational system. This issue is studied using data on secondary school students in 60 schools throughout the Netherlands. More than 1,500 adolescents, aged 14–17 years, were surveyed about their future plans, preferences, and ambitions. In addition, their parents also filled out a questionnaire on the future plans of their child. We found that parents’ cultural status generally has a stronger effect on their children’s life plans than parents’ economic status. Furthermore, these effects were mediated both by parents’ own preferences for their children’s future life course and by the child’s level of education. Status effects were found for both the family and the professional domain. Furthermore, only limited gender differences were observed.

Published
2016

33. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Author

Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., Kawalia, A., Toliat, M. R., Sander, T., Ruschendorf, F., Caliebe, A., Nagel, I., Kohl, B., Kecskes, A., Jacmin, M., Hardies, K., Weckhuysen, S., Riesch, E., Dorn, T., Brilstra, E. H., Baulac, S., Moller, R. S., Hjalgrim, H., Koeleman, B. P. C., Jurkat-Rott, K., Lehman-Horn, F., Roach, J. C., Glusman, G., Hood, L., Galas, D. J., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nurnberg, P., Crawford, A. D., Esguerra, C. V., Weber, Y. G., Lerche, H., Euro, Epinomics R. E. S. Consortium, EuroEPINOMICS RES Consortium, [GIN] Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Luxembourg Centre For Systems Biomedicine (LCSB), University of Luxembourg [Luxembourg], Institute for Systems Biology [Seattle] (ISB), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurogenetics Group, Institut für Humangenetik, Universität Heidelberg [Heidelberg], Cologne Center for Genomics (CCG), University of Cologne, Department of Molecular and Developmental Genetics (VIB11), Flanders institute of biotechnology, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Medical Genetics Laboratory, Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Laboratory of Pharmaceutical Biology, Faculty of Pharmaceutical Sciences Lueven Belgium, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Center for Genomics and Transcriptomics (CEGAT), Antwerp University Hospital [Edegem] (UZA), Children’s Hospital of Philadelphia (CHOP ), Cologne Center for Genomics, University of Cologne, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Heidelberg [Heidelberg] = Heidelberg University, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Genetic Linkage, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Syntaxin 1, medicine.disease_cause, Epilepsy/genetics, Cohort Studies, Epilepsy, 0302 clinical medicine, Syntaxin 1/genetics, Missense mutation, Exome, ComputingMilieux_MISCELLANEOUS, In Situ Hybridization, Fluorescence, Zebrafish, Genetics, 0303 health sciences, Mutation, Comparative Genomic Hybridization, Temperature, PAROXYSMAL KINESIGENIC DYSKINESIA SYNAPTIC VESICLE FUSION DE-NOVO MUTATIONS FEBRILE SEIZURES INFANTILE CONVULSIONS GENERALIZED EPILEPSY PRRT2 MUTATIONS GENERATION DISORDERS ZEBRAFISH, Pedigree, Phenotype, Codon, Nonsense, Female, Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Seizures, Febrile, 03 medical and health sciences, SCN1B, medicine, Animals, Humans, Amino Acid Sequence, Seizures, Febrile/genetics, Generalized epilepsy, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Sequence Analysis, DNA, Paroxysmal dyskinesia, medicine.disease, Epilepsy syndromes, Human medicine, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Gene Deletion
Abstract

Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding syntaxin-1B(6), that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees(7,8) identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations and a de novo microdeletion encompassing STX1B were then identified in 449 familial or sporadic cases. Video and local field potential analyses of zebrafish larvae with antisense knockdown of stx1b showed seizure-like behavior and epileptiform discharges that were highly sensitive to increased temperature. Wild-type human syntaxin-1B but not a mutated protein rescued the effects of stx1b knockdown in zebrafish. Our results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.

Published
2014
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34. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Author

Witkowski, L. Carrot-Zhang, J. Albrecht, S. Fahiminiya, S. Hamel, N. Tomiak, E. Grynspan, D. Saloustros, E. Nadaf, J. Rivera, B. Gilpin, C. Castellsagué, E. Silva-Smith, R. Plourde, F. Wu, M. Saskin, A. Arseneault, M. Karabakhtsian, R.G. Reilly, E.A. Ueland, F.R. Margiolaki, A. Pavlakis, K. Castellino, S.M. Lamovec, J. Mackay, H.J. Roth, L.M. Ulbright, T.M. Bender, T.A. Georgoulias, V. Longy, M. Berchuck, A. Tischkowitz, M. Nagel, I. Siebert, R. Stewart, C.J.R. Arseneau, J. McCluggage, W.G. Clarke, B.A. Riazalhosseini, Y. Hasselblatt, M. Majewski, J. Foulkes, W.D.

Abstract

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches. © 2014 Nature America, Inc. All rights reserved.

Published
2014

35. Hybrid neurofibroma / schwannoma – a molecular study

Author

Wesemann, M, Nagel, I, Fischer, S, Stahn, V, Gesk, S, Oyen, F, Schneppenheim, R, Siebert, R, Paulus, W, and Harder, A

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, ddc: 610, 610 Medical sciences, Medicine, nervous system diseases
Abstract

Common benign peripheral nerve sheath tumors such as schwannomas and neurofibromas arise both sporadically and in the setting of neurofibromatosis. They differ not only by histologic features but also by distinct molecular genetic events, leading to loss of neurofibromin in neurofibromas (NF1) and loss[for full text, please go to the a.m. URL], 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

Published
2012
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38. DNA methylome analysis in Burkitt and follicular lymphomas identifies differentially methylated regions linked to somatic mutation and transcriptional control

Author

Kretzmer, H., Bernhart, S.H., Wang, W., Haake, A., Weniger, M.A., Bergmann, A.K., Betts, M.J., Carrillo-de-Santa-Pau, E., Doose, G., Gutwein, J., Richter, J., Hovestadt, V., Huang, B., Rico, D., Juhling, F., Kolarova, J., Lu, Q., Otto, C., Wagener, R., Arnolds, J., Burkhardt, B., Claviez, A., Drexler, H.G., Eberth, S., Eils, R., Flicek, P., Haas, S., Hummel, M., Karsch, D., Kerstens, H.H.D., Klapper, W., Kreuz, M., Lawerenz, C., Lenze, D., Loeffler, M., Lopez, C., MacLeod, R.A., Martens, J.H.A., Kulis, M., Martin-Subero, J.I., Moller, P., Nagel, I., Picelli, S., Vater, I., Rohde, M., Rosenstiel, P., Rosolowski, M., Russell, R.B., Schilhabel, M., Schlesner, M., Stadler, P.F., Szczepanowski, M., Trumper, L., Stunnenberg, H.G., Kuppers, R., Ammerpohl, O., Lichter, P., Siebert, R., Hoffmann, S., Radlwimmer, B., Kretzmer, H., Bernhart, S.H., Wang, W., Haake, A., Weniger, M.A., Bergmann, A.K., Betts, M.J., Carrillo-de-Santa-Pau, E., Doose, G., Gutwein, J., Richter, J., Hovestadt, V., Huang, B., Rico, D., Juhling, F., Kolarova, J., Lu, Q., Otto, C., Wagener, R., Arnolds, J., Burkhardt, B., Claviez, A., Drexler, H.G., Eberth, S., Eils, R., Flicek, P., Haas, S., Hummel, M., Karsch, D., Kerstens, H.H.D., Klapper, W., Kreuz, M., Lawerenz, C., Lenze, D., Loeffler, M., Lopez, C., MacLeod, R.A., Martens, J.H.A., Kulis, M., Martin-Subero, J.I., Moller, P., Nagel, I., Picelli, S., Vater, I., Rohde, M., Rosenstiel, P., Rosolowski, M., Russell, R.B., Schilhabel, M., Schlesner, M., Stadler, P.F., Szczepanowski, M., Trumper, L., Stunnenberg, H.G., Kuppers, R., Ammerpohl, O., Lichter, P., Siebert, R., Hoffmann, S., and Radlwimmer, B.

Abstract

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Published
2015

39. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing

Author

Vater, I., Montesinos-Rongen, M., Schlesners, M., Haakel, A., Purschke, F., Sprute, R., Mettenmeyer, N., Nazzal, I., Nagel, I., Gutwein, J., Richter, J., Buchhalter, I., Russell, R. B., Wiestler, O. D., Eils, R., Deckert, M., Siebert, R., Vater, I., Montesinos-Rongen, M., Schlesners, M., Haakel, A., Purschke, F., Sprute, R., Mettenmeyer, N., Nazzal, I., Nagel, I., Gutwein, J., Richter, J., Buchhalter, I., Russell, R. B., Wiestler, O. D., Eils, R., Deckert, M., and Siebert, R.

Abstract

To decipher the mutational pattern of primary CNS lymphoma (PCNSL), we performed whole-exome sequencing to a median coverage of 103 x followed by mutation verification in 9 PCNSL and validation using Sanger sequencing in 22 PCNSL. We identified a median of 202 (range: 139-251) potentially somatic single nucleotide variants (SNV) and 14 small indels (range: 7-22) with potentially protein-changing features per PCNSL. Mutations affected the B-cell receptor, toll-like receptor, and NF-kappa B and genes involved in chromatin structure and modifications, cell-cycle regulation, and immune recognition. A median of 22.2% (range: 20.0-24.7%) of somatic SNVs in 9 PCNSL overlaps with the RGYW motif targeted by somatic hypermutation (SHM); a median of 7.9% (range: 6.2-12.6%) affects its hotspot position suggesting a major impact of SHM on PCNSL pathogenesis. In addition to the well-known targets of aberrant SHM (aSHM) (PIM1), our data suggest new targets of aSHM (KLHL14, OSBPL10, and SUSD2). Among the four most frequently mutated genes was ODZ4 showing protein-changing mutations in 4/9 PCNSL. Together with mutations affecting CSMD2, CSMD3, and PTPRD, these findings may suggest that alterations in genes having a role in CNS development may facilitate diffuse large B-cell lymphoma manifestation in the CNS. This may point to intriguing mechanisms of CNS tropism in PCNSL.

Published
2015

43. Effecten van ouders en school op cultuurparticipatie in de periode van adolescentie tot jongvolwassenheid: Resultaten van een longitudinaal dubbel contextueel model

Author

Nagel, I., Ganzeboom, H.B.G., Kalmijn, Matthijs, and Wittenberg, Marion

Abstract

We analyseren de relatieve invloed van de ouderlijk milieu en de school voor voortgezet onderwijs op cultuurparticipatie van jongvolwassenen (25-35 jaar oud) via de gelijkenis van het gedrag van primaire respondenten met dat van hun voormalige schoolgenoten en met het gedrag van een sibling (broer/zus). De cultuurdeelname heeft betrekking op het moment van ondervraging en – retrospectief – op het moment dat de betreffende personen 15 jaar oud waren en nog op school zaten en thuis woonden. Tezamen vormt dit design een dubbel-contextueel model, waarbij de contexten niet hiërarchisch, maar kruislings geordend zijn. We analyseren de dubbel-contextuele longitudinale structuur middels een cross-classified multi-level model, waarvoor recent in MLWin MCMC (markov chain monte carlo) schattingsmethoden ter beschikking zijn gekomen. De belangrijkste uitkomst is dat de invloed van het milieu van herkomst verre die van de school overtreft; dit blijkt sterker uit het dubbel-contextuele model dan we op basis van gemeten kenmerken zouden besluiten.

Published
2008

45. Perception

Author

Nagel, I., Werkle-Bergner, M., https://orcid.org/0000-0002-6399-9996, Li, S., Lindenberger, U., and https://orcid.org/0000-0001-8428-6453

Published
2007

46. Effect of remediation on trace metal pollution in soils of Guadiamar river valley

Author

Cabrera, Francisco, Clemente Salas, Luis, Cordón, Rosario, Hurtado, María Dolores, López Núñez, Rafael, Madejón, Paula, Marañón, Teodoro, Moreno Lucas, Félix, Murillo Carpio, José Manuel, and Nagel, I.

Abstract

8 páginas, 3 figuras, 5 tablas.-- Pertenece al Capítulo I: Terrestrial Ecosystem.-- The authors constitute of an interdisciplinary group of scientists (chemists, biologists, ecologists, environmentalists) who are participating in different projects on soils, plants and soil-plant relationships in heavy metals contaminated soils of Guadiamar river valley., The Aznalcóllar mine-tailing spill (25th April 1998) affected about 2700 ha of agricultural land. A sludge layer mainly composed of pyrite, arsenopyrite, sphalerite and galena covered Guadiamar riverbank soils. Severe As, Cd, Cu, Pb, Tl and Zn pollution was observed in most of the sludge-affected soils. The sludge layer was removed from the soil surface and sugar beet lime and organic matter material were applied. The soils affected by the mine spill of Aznalcóllar continued to exhibit elevated concentrations of As, Cd, Cu, Pb and Zn when compared to the background values of the Guadiamar valley soils. Total concentration of these elements increased in the soil after the remediation. This can be attributed to the remains of the sludge layer left on the surface of the soil and buried during sludge removal, liming and manuring. In all affected soils, EDTA extractable trace elements after remediation were also much higher than in non-affected soils of the same area., Financial support to the Programa de Investigación del Corredor Verde (PICOVER) and to the Comisión Interministerial de Ciencia y Tecnología (CICYT) of the Spanish Ministry of Science and Technology, projects REN2000-1519 TECNO, CICYT-FEDER 1FD97-0765 and CICYT-FEDER 1FD97-1867.

Published
2005

47. Cultuurdeelname in de levensloop

Author

Nagel, I., Ganzeboom, Harry BG, Snijders, T.A.B., Methods and Techniques, and Social Inequality and the Life Course (SILC)

Published
2004

49. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing

Author

Vater, I, primary, Montesinos-Rongen, M, additional, Schlesner, M, additional, Haake, A, additional, Purschke, F, additional, Sprute, R, additional, Mettenmeyer, N, additional, Nazzal, I, additional, Nagel, I, additional, Gutwein, J, additional, Richter, J, additional, Buchhalter, I, additional, Russell, R B, additional, Wiestler, O D, additional, Eils, R, additional, Deckert, M, additional, and Siebert, R, additional

Published
2014
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50. ATYPICAL TERATOID RHABDOID TUMOUR

Author

Bertozzi, A. I., primary, Munzer, C., additional, Fouyssac, F., additional, Andre, N., additional, Boetto, S., additional, Leblond, P., additional, Bourdeaut, F., additional, Dufour, C., additional, Deshpande, R. K., additional, Bhat, K. G., additional, Mahalingam, S., additional, Muscat, A., additional, Cain, J., additional, Ferguson, M., additional, Popovski, D., additional, Algar, E., additional, Rossello, F. J., additional, Jayasekara, S., additional, Watkins, D. N., additional, Hodge, J., additional, Ashley, D., additional, Hishii, M., additional, Saito, M., additional, Arai, H., additional, Han, Z. Y., additional, Richer, W., additional, Lucchesi, C., additional, Freneaux, P., additional, Nicolas, A., additional, Grison, C., additional, Pierron, G., additional, Delattre, O., additional, Epari, S., additional, TS, N., additional, Gupta, T., additional, Chinnaswamy, G., additional, Sastri, J. G., additional, Shetty, P., additional, Moiyadi, A., additional, Jalali, R., additional, Fay-McClymont, T., additional, Johnston, D., additional, Janzen, L., additional, Guger, S., additional, Scheinemann, K., additional, Fleming, A., additional, Fryer, C., additional, Hukin, J., additional, Mabbott, D., additional, Huang, A., additional, Bouffet, E., additional, Lafay-Cousin, L., additional, Kawamura, A., additional, Yamamoto, K., additional, Nagashima, T., additional, Bartelheim, K., additional, Benesch, M., additional, Buchner, J., additional, Gerss, J., additional, Hasselblatt, M., additional, Kortmann, R.-D., additional, Fleischack, G., additional, Quiroga, E., additional, Reinhard, H., additional, Schneppenheim, R., additional, Seeringer, A., additional, Siebert, R., additional, Timmermann, B., additional, Warmuth-Metz, M., additional, Schmid, I., additional, Fruhwald, M. C., additional, Kerl, K., additional, Klingebiel, T., additional, Al-Kofide, A., additional, Khafaga, Y., additional, Al-Hindi, H., additional, Dababo, M., additional, Ul-Haq, A., additional, Anas, M., additional, Barria, M. G., additional, Siddiqui, K., additional, Hassounah, M., additional, Ayas, M., additional, Al-Shail, E., additional, Jeibmann, A., additional, Eikmeier, K., additional, Linge, A., additional, Johann, P., additional, Koos, B., additional, Kool, M., additional, Pfister, S. M., additional, Paulus, W., additional, Schuller, U., additional, Junckerstorff, R., additional, Rosenblum, M. K., additional, Alassiri, A. H., additional, Rossi, S., additional, Gottardo, N., additional, Toledano, H., additional, Viscardi, E., additional, Witkowski, L., additional, Nagel, I., additional, Oyen, F., additional, Foulkes, W. D., additional, Schrey, D., additional, Malietzis, G., additional, Chi, S., additional, Marshall, L., additional, Carceller, F., additional, Moreno, L., additional, Zacharoulis, S., additional, Bhardwaj, R., additional, Chakravadhanula, M., additional, Ozals, V., additional, Hampton, C., additional, Metpally, R., additional, Grillner, P., additional, Asmundsson, J., additional, Gustavsson, B., additional, Holm, S., additional, Johann, P. D., additional, Korshunov, A., additional, Ryzhova, M., additional, Milde, T., additional, Witt, O., additional, Jones, D. T. W., additional, Hovestadt, V., additional, Gajjar, A., additional, Fruhwald, M., additional, Pfister, S., additional, Finetti, M., additional, Pons, A. d. C., additional, Selby, M., additional, Smith, A., additional, Crosier, S., additional, Wood, J., additional, Skalkoyannis, B., additional, Bailey, S., additional, Clifford, S., additional, Williamson, D., additional, Rutkowski, S., additional, Kortmann, R. D., additional, Graf, N., additional, Boos, J., additional, Nysom, K., additional, Moreno, N., additional, Holsten, T., additional, Ahlfeld, J., additional, Mertins, J., additional, Hotfilder, M., additional, Schleicher, S., additional, Handgretinger, R., additional, Meisterernst, M., additional, Schmidt, C., additional, Dittmar, S., additional, Chan, G. C. F., additional, Shing, M. M. K., additional, Yuen, H. L., additional, Li, R. C. H., additional, Ling, S. L., additional, Slavc, I., additional, Peyrl, A., additional, Chocholous, M., additional, Azizi, A., additional, Czech, T., additional, Dieckmann, K., additional, Haberler, C., additional, Leiss, U., additional, Gotti, G., additional, Biassoni, V., additional, Schiavello, E., additional, Spreafico, F., additional, Pecori, E., additional, Gandola, L., additional, Massimino, M., additional, Kornelius, K., additional, Yano, H., additional, Nakayama, N., additional, Ohe, N., additional, Ozeki, M., additional, Kanda, K., additional, Kimura, T., additional, Hori, T., additional, Fukao, T., additional, Iwama, T., additional, Weil, A. G., additional, Diaz, A., additional, Gernsback, J., additional, Bhatia, S., additional, Ragheb, J., additional, Niazi, T., additional, Khatib, Z., additional, Zoghbi, A., additional, Meisterernst, a. M., additional, Birks, D., additional, Griesinger, A., additional, Amani, V., additional, Donson, A., additional, Posner, R., additional, Dunham, C., additional, Kleinschmidt-DeMasters, B. K., additional, Handler, M., additional, Vibhakar, R., additional, Foreman, N., additional, Zhou, L., additional, Catchpoole, D., additional, Kakkar, A., additional, Biswas, A., additional, Suri, V., additional, Sharma, M., additional, Kale, S., additional, Mahapatra, A., additional, Sarkar, C., additional, Torchia, J., additional, Picard, D., additional, Ho, K. C., additional, Khuong-Quang, D.-A., additional, Louterneau, L., additional, Bourgey, M., additional, Chan, T., additional, Golbourn, B., additional, Cousin, L.-L., additional, Taylor, M. D., additional, Dirks, P., additional, Rutka, J. T., additional, Hawkins, C., additional, Majewski, J., additional, Kim, S.-K., additional, Jabado, N., additional, Chang, J. H.-C., additional, Confer, M., additional, Chang, A., additional, Goldman, S., additional, Dunn, M., additional, and Hartsell, W., additional

Published
2014
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