Concurrent Sessions C18 - C24 - Tuesday, May 24 - 11.00 - 12.30 hrs
| Room | Plenary Hall | Room 112 | Room 117 | Room 113+114 | Room 115+116 | Room 111 |
C19 Big data Analyses of Intellectual Disability | C20 Gene Editing: To Fear or to Cheer? (joint with EMPAG) | C21 Disorders with skin abnormalities | C22 Cardiovascular disorders | C23 Functional Genomics | C24 Rare Disease Gene Discoveries | |
| 11.00 | C19.1 The prevalence and architecture of dominant developmental disorders Matthew E. Hurles, Deciphering Developmental Disorders Study;
| C20.1 Introduction by the Chair
| C21.1 Antisense oligonucleotide-mediated exon skipping as a potential systemic treatment for recessive dystrophic epidermolysis bullosa J. Bremer, O. Bornert, A. Nyström, A.H. Gostynski, M.F. Jonkman, A. Aartsma-Rus, A.M.G. Pasmooij, Peter C. Van den Akker*;
| C22.1 FOXF2, a novel risk locus for stroke and small artery disease: a genome-wide association study Ganesh Chauhan*, C.R. Arnold, A.Y. Chu, M. Fornage, A. Reyahi, J.C. Bis, A.S. Havulinna, the Cervical Artery Dissection and Ischemic Stroke Patients (CADISP) study, the METASTROKE consortium, the Stroke Genetics Network (SiGN, the International Stroke Genetics Consortium (ISGC), O.J. Lehmann, L.J. Launer, M. Ikram, P. Carlsson, D.I. Chasman, S.J. Childs, W.T. Longstreth, Jr, S. Seshadri, S. Debette, the Neurology Working Group of the CHARGE consortium;
| C23.1 Mosaic loss of chromosome Y (LOY) in peripheral blood is associated with age, smoking, shorter survival and increased risk of cancer and Alzheimer’s disease (AD) in men J. Dumanski, J. Lambert, C. Rasi, V. Giedraitis, H. Davies, B. Grenier-Boley, C.M. Lindgren, D. Campion, C. Dufouil, C. Bellenguez, V. Chouraki, A. Brice, J. Epelbaum, C. Berr, J. Dartigues, D. Hannequin, A. Boland, M. Lathrop, D. Zelenika, F. Pasquier, P. Amouyel, L. Lannfelt, M. Ingelsson, L. Kilander, L. Lind, Lars A. Forsberg;
| C24.1 Studying the genetic basis of idiopathic short stature using whole exome sequencing Christian T. Thiel, N.N. Hauer, E. Schöller, S. Schuhman, M.T. Wittmann, B. Popp, S. Uebe, C. Büttner, A.B. Ekici, K. Kutsche, D. Wieczorek, H. Sticht, H. Dörr, A. Reis;
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| 11.15 | C19.2 Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability Stefan H. Lelieveld*, M.R.F. Reijnders, R. Pfundt, H.G. Yntema, E. Kamsteeg, P. de Vries, B.B.A. de Vries, M.H. Willemsen, T. Kleefstra, K. Löhner, M. Vreeburg, S. Stevens, I. van der Burgt, E.M.H.F. Bongers, A.P.A. Stegmann, P. Rump, T. Rinne, M.R. Nelen, J.A. Veltman, L.E.L.M. Vissers, H.G. Brunner, C. Gilissen; |
This presentation had to be cancelled | C21.2 Osteoporosis in the segmental progeroid disorder gerodermia osteodysplastica is caused by defective decorin glycanation and TGF-? induced oxidative stress Uwe Kornak, W. Chan, M. Steiner, J. Egerer, A.C. Ma, B. Busse, S. Mizumoto, J. Pestka, H. Zhang, I. Hausser, K. Sugahara, M. Amling, D. Chan, S. Mundlos; | C22.2 Whole exome sequencing identifies ALPK3 as a new disease gene causing both severe paediatric and ‘milder’ adult-onset cardiomyopathies Jan D.H. Jongbloed, J.M.A. Verhagen, R. Almomani, E. Brosens, K.Y. van Spaendonck-Zwarts, A. Asimaki, P.A. van der Zwaag, I.M.E. Frohn-Mulder, A.M. Bertoli-Avella, L.G. Boven, M.A. van Slegtenhorst, J.J. van der Smagt, W.F.J. van IJcken, B. Timmer, M. van Stuijvenberg, R.M. Verdijk, J.E. Saffitz, F.A. du Plessis, M. Michels, M.P. van den Berg, R.M.W. Hofstra, P. van der Harst, R.J. Sinke, P. van Tintelen, M.W. Wessels, J.C. Herkert, I.M.B.H. van de Laar; | C23.2 Single cell allele specific expression (ASE) in T21 and common trisomies:Novel approach to understand gene dosage effects in Down syndrome and common aneuploidies Georgios Stamoulis*, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, M. Garieri, N. Panousis, E. Falconnet, P. Ribaux, C. Borel, S.E. Antonarakis; | C24.2 Targeted Next Generation Sequencing in skeletal dysplasias: experience on 216 patients Caroline Michot, S. Hanein, C. Haudry, G. Baujat, S. Monnot, A. Munnich, J. Bonnefont, V. Cormier-Daire; |
| 11.30 | C19.3 Whole exome sequencing in 150 consanguineous families with intellectual disability: high diagnostic yield and identification of novel candidate genes M. Reuter, H. Tawamie, R. Buchert, T. Froukh, O. Hosny Gebril, T. Strom, S. Hoffjan, D. Wieczorek, H. Sticht, André Reis, R. Abou Jamra; | C20.3 Are biomedical research fundamental principles appropriate for using genome editing in humans? Emmanuelle Rial-Sebbag, A. Cambon-Thomsen; | C21.3 Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type M. Isrie, M. Breuss, G. Tian, A.H. Hansen, F. Cristofoli, J. Morandell, E. Porta Dapena, K. Leonard, F. Tinsa, S. Moortgat, H. Ulucan, E. Koparir, E. Karaca, N. Katsanis, V. Marton, J.R. Vermeesch, E. Davis, N. Cowan, D.A. Keys, Hilde Van Esch; | C22.3 Exome sequencing reveals distinct genetic architectures for syndromic and nonsyndromic congenital heart defects Alejandro Sifrim*, M. Hitz, A. Wilsdon, J. Breckpot, S.H. Al Turki, B. Thienpont, J. McRae, T.W. Fitzgerald, T. Singh, G.J. Swaminathan, D. Rajan, E. Prigmore, The INTERVAL study, The UK10K Consortium, Competence Network for Congenital Heart Defects, German Register for Congenital Heart Defects, S. Mital, P. Daubeney, B. Keavney, J. Goodship, R.M. Abu-Sulaiman, S. Klaassen, C.F. Wright, H.V. Firth, J.C. Barrett, K. Devriendt, D.R. Fitzpatrick, J.D. Brook, The Deciphering Developmental Disorders Study, M.E. Hurles; | C23.3 The landscape of polymorphic inversions and their functional impact in the human genome Jon Lerga-Jaso*, M. Oliva, S. Villatoro, D. Izquierdo, L. Pantano, S. Casillas, M. Cáceres; | C24.3 NUP107 mutations cause autosomal recessive inherited early childhood-onset steroid resistant Nephrotic syndrome Noriko Miyake, H. Tsukaguchi, E. Koshimizu, A. Shono, N. Matsumoto; |
| 11.45 | C19.4 Common morphological and transcriptome changes in Rett spectrum disorders justify a shared therapeutic approach Anna Maria Pinto*, E. Landucci, L. Bianciardi, S. Daga, E. Frullanti, M. Brindisi, S. Butini, V. Imperatore, F. Ariani, S. Brogi, G. Campiani, A. Renieri, I. Meloni; | C20.4 One small edit for man, one large edit for mankind? Points to consider for a responsible way forward with gene editing Heidi C. Howard, G. de Wert, C.G. van El, F. Forzano, D. Radojkovic, E. Rial-Sebbag, M.C. Cornel, on behalf of the Public and Professional Policy Committee of the European Society of Human Genetics; | C21.4 Two new genetic disorders presenting with lymphatic-related hydrops fetalis E. Fotiou, S. Martin-Almedina, I. Martinez-Corral, R. Holdhus, A. Vicente, M.A. Simpson, S. Lin, K. Petersen, A. Hoischen, C. Gilissen, H. Jeffery, G. Atton, J.W. Wiseman, M. Wedin, K. Gordon, G. Brice, I. Jeffery, D.C. Rees, C. Mignot, J. Vogt, T. Homfray, M.P. Snyder, S.G. Rockson, S. Jeffery, P.S. Mortimer, S. Berland, T. Makinen, S. Mansour, Pia Ostergaard; | C22.4 Defective connective tissue remodeling in Smad3 mice leads to accelerated aneurysmal growth through disturbed downstream TGF-ß signaling Ingrid van der Pluijm, N. van Vliet, J. von der Thusen, J. Robertus, Y. Ridwan, P. van Heijningen, B. van Thiel, M. Vermeij, R. Buijs-Offerman, R. Kanaar, A. Bertoli-Avella, J. Essers; | C23.4 Assessment of the GENCODE annotation through experimental validation Anne-Maud Ferreira*, B. Uszczynska, J. Lagarde, J. Chrast, A. Frankish, J. Harrow, R. Guigó, A. Reymond; | C24.4 Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) Anne Kosfeld, M. Kreuzer, C. Daniel, F. Brand, A. Schäfer, A. Chadt, A. Weiss, V. Riehmer, C. Jeanpierre, M. Klintschar, J. Bräsen, K. Amann, L. Pape, A. Kispert, H. Al-Hasani, D. Haffner, R.G. Weber; |
| 12.00 | C19.5 Haploinsufficiency of MECP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity J. Witteveen, M.H. Willemsen, T.C.D. Dombroski, N.H. van Bakel, W.M. Nillessen, J.A. van Hulten, E.J.R. Jansen, I.E. Veenstra-Knol, C.M.A. van Ravenswaaij, J.S. Klein Wassink-Ruiter, P. Rump, M. Vincent, A. David, C. Le Gaignec, J. Schieving, C. Gilissen, N. Foulds, T. Strom, K. Cremer, A.M. Zink, H. Engels, S.A. de Munnik, J.E. Visser, H.G. Brunner, G.J.M. Martens, R. Pfundt, S.M. Kolk, Tjitske Kleefstra; | C20.5 Ethical issues of gene editing: what does popular media report? Emilia Niemiec*, B.M. Zimmermann, H.C. Howard; | C21.5 Natural history of Ehlers-Danlos Syndrome (EDS) caused by CHST14/D4ST1 deficiency: from an international collaborative clinical study by the International Consortium for EDS Tomoki Kosho, D. Syx, T. Van Damme, H. Morisaki, H. Kawame, T. Sonoda, Y. Hilhorst-Hofstee, N.C. Voermans, K.J. Wierenga, R. Mendoza-Londono, K. Ishikawa, T. Kobayashi, M. Kono, K. Mochida, K. Kikkawa, C. Giunta, A.R. Janecke, N. Miyake, F. Malfait; | C22.5 Loss-of-function mutations in the X-linked gene BGN cause a severe syndromic form of thoracic aortic aneurysms and dissections Josephina A.N. Meester*, G. Vandeweyer, I. Pintelon, K. Waitzman, L. Young, L.W. Markham, J. Vogt, J. Richer, L.M. Beauchesne, S. Unger, A. Superti-Furga, E. Reyniers, A. Verstraeten, L. Van Laer, B.L. Loeys; | C23.5 Single-cell RNA-seq analysis of human pancreatic islets Marco Garieri*, C. Borel, T. Stoeger, F. Santoni, C. Howald, P. Ribaux, L. Pelkmans, P. Halban, S. Antonarakis, E. Dermitzakis; | C24.5 Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype Laura Crisponi, A. Angius, P. Uva, I. Buers, M. Oppo, A. Puddu, S. Onano, I. Persico, A. Loi, L. Marcia, W. Höhne, G. Cuccuru, G. Fotia, M. Deiana, M. Marongiu, H. Atalay, S. Inan, O. El Assy, L. Smit, I. Okur, E. K?l?ç, G. Zampino, G. Crisponi, F. Rutsch; |
| 12.15 | C19.6 Genes controlling cell movement und migration are deregulated in ARID1B-associated ID Georgia Vasileiou, M.V. Hadjihannas, A. Reis; | C20.6 Optimising CRISPR genome editing using machine learning Riley Doyle; | C21.6 Duplicated enhancer region upstream of the CTSB gene segregates with keratolytic winter erythema in South African and Norwegian families Thandiswa Ngcungcu*, M. Oti, B.I. Haukanes, J.C. Sitek, F. Yang, R. Bruccoleri, T. Stokowy, E.J. Oakeley, B. Linghu, J. Zhu, M. Sultan, J. Schalkwijk, C. von der Lippe, H.G. Brunner, S. Buechmann-Moller, M.M. Thomas, N. Nirmala, H. van Bokhoven, V.M. Steen, P.R. Hull, J. Szustakowski, F. Staedtler, H. Zhou, T. Fiskerstrand, M. Ramsay; |
This presentation had to be cancelled | C23.6 Identifying novel long non-coding RNAs in the Human genome Matthew P. Hardy, J. Harrow, J. Loveland, A. Frankish, HAVANA Group; | C24.6 Loss-of-function mutations in ELMO2 impeding RAC1 signaling and cell migration cause intraosseous vascular malformation Arda Cetinkaya, J.R. Xiong, I. Vargel, K. Kosemehmetoglu, I. Canter, O.F. Gerdan, N. Longo, A. AlZahrani, E.Z. Taskiran, L.D. Botto, Z. Gormez, E. Uz, B. Yuksel, S. Ruacan, M.S. Sa??ro?lu, T. Takahashi, B. Reversade, N.A. Akarsu; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates