Concurrent Sessions C13 - C17 - Tuesday, May 31 - 11.00 - 12.30 hr


C13 Molecular Cytogenetics

C14 Genetic Counselling, Education and Public Policy

C15 Intellectual Disability

C16 Genomic Applications

C17 Molecular Basics of Genetic Diseases


P11.037 Copy number variation and chromatin structure
R. M. Witwicki,
E. Migliavacca, G. Didelot, A. Reymond, N. Gheldof

C14.1 Cutting edge technology and old-fashioned relationships: ethical reflections on incidental findings arising from whole genome and exome sequencing
G. M. Christenhusz
, K. Devriendt, K. Dierickx

C15.1 Epigenetic regulation of learning & memory in a Drosophila model for Kleefstra syndrome
J. M. Kramer, K. Kochinke, M. A. W. Oortveld, H. Marks, D. Kramer, E. K. de Jong, Z. Asztalos, J. T. Westwood, H. G. Stunnenberg, M. B. Sokolowski, K. Keleman, H. Zhou, H. van Bokhoven, A. Schenck

C16.1 High-resolution whole genome sequencing reveals specific chromatin domains from most human chromosomes associate with nucleoli
S. van Koningsbruggen
, M. Gierlinski, P. Schofield, D. M. Martin, G. J. Barton, Y. Ariyurek, J. T. den Dunnen, A. I. Lamond

C17.1 Hypofunctional CHD1L variants in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)
A. Brockschmidt, B. Chung, S. Weber, D. Fischer, M. Kolatsi-Joannou, L. Christ, G. Klaus, G. D. Simonetti, M. Konrad, P. Winyard, D. Haffner, F. Schaefer, R. G. Weber


C13.2 Balanced translocation and copy number detection in hematologic disorders by array CGH
L. G. Shaffer
, R. Schultz, V. Cawich, C. Valentin, S. Minier, L. McDaniel, N. Neill, S. Byerly, A. Morton, B. C. Ballif

C14.2 Public attitudes towards genetic testing revisited. Comparing opinions between 2002 and 2010
E. Vermeulen
, L. Henneman, C. G. Van El, M. C. Cornel

C15.2 Mutations in the NSUN2 and ZNF526 genes cause autosomal recessive intellectual disability in Middle Eastern populations with elevated frequency
L. Abbasi Moheb
, S. Mertel, L. R. Jensen, L. Nouri Vahid, S. Ghadami, K. Wrogemann, H. Hu, R. Weissmann, M. Mohseni, K. Kahrizi, A. Tzschach, D. Wieczorek, M. Garshasbi, S. Cirak, S. Abedini, H. Najmabadi, H. Ropers, S. Sigrist, A. Kuss

C16.2 Interrogation of high purity primary cell subsets demonstrates the majority of eQTLs operate in a cellular discrete manner
B. P. Fairfax
, S. Makino, K. Plant, J. Radhakrishnan, J. C. Knight

C17.2 First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma
J. P. Casey
, R. Kawaguchi, M. Morrissey, H. San, P. McGettigan, J. Nielsen, J. Conroy, R. Regan, P. Tormey, M. Ní Chróinín, B. Kennedy, S. Lynch, A. Green, S. Ennis


C13.3 A standardized statistical decision procedure for mosaic detection by array CGH
B. Sikkema-Raddatz, L. F. Johansson, T. Dijkhuizen, C. M. A. van Ravenswaaij-Arts, R. J. Sinke, G. J. te Meerman

C14.3 Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing
P. Borry
, H. C. Howard

C15.3 Mutations in genes encoding adaptor protein complex 4 (AP-4) subunits cause a clinically recognizable autosomal recessive syndrome
O. Philippe
, R. Abou Jamra, A. Raas-Rothschild, G. Borck, R. Buchert, T. Strom, S. Eck, A. Munnich, L. Colleaux, A. Reis

C16.3 Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor
E. R. Londin
, M. A. Keller, K. Delgrosso, A. Ertel, S. Surry, M. R. D'Andrea, K. Gwinn, P. Fortina

C17.3 Mutations in the 5' UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, cause an Autosomal-Dominant form of inherited Thrombocytopenia, THC2
T. Pippucci
, A. Savoia, S. Perrotta, N. Pujol-Moix, P. Noris, G. Castegnaro, A. Pecci, C. Gnan, F. Punzo, C. Marconi, S. Gherardi, G. Loffredo, D. De Rocco, S. Scianguetta, S. Barozzi, P. Magini, V. Bozzi, L. Dezzani, M. Di Stazio, M. Ferraro, G. Perini, M. Seri, C. L. Balduini


C13.4 A significant proportion of private inherited CNVs has pathogenic relevance in intellectual disability: clinical-genetic survey in 40 families
M. Zollino, D. Orteschi, G. Marangi, S. Lattante, M. Murdolo, S. Ricciardi, G. Neri

C14.4 Familial Breast cancer: Is it time to move from a reactive to a proactive role?
I. Nippert
, H. Harris, C. Julian-Reynier, J. Schmidtke, C. J. van Asperen, A. Tibben, D. G. Evans

C15.4 A novel dynamic mutation in AFF3 associated with developmental delay
S. Metsu
, L. Rooms, J. Gecz, D. R. FitzPatrick, R. F. Kooy

C16.4 Unmasking of pathogenic rare variants by inherited deletions detected with multiplexed capture array-based re-sequencing.
R. Hochstenbach
, I. Nijman, M. Poot, W. Kloosterman, I. Renkens, K. Duran, E. van Binsbergen, B. van der Zwaag, V. Guryev, S. Koval, H. Ploos van Amstel, E. Cuppen

C17.4 Genomic instability represents the unifying molecular pathology of progressive muscular dystrophies and muscle-derived sarcomas
W. M. Schmidt
, M. H. Uddin, S. Dysek, K. Moser-Thier, S. Kummer, A. Lauermann, D. Maddaluno, C. Pirker, H. Höger, I. M. Ambros, P. F. Ambros, W. Berger, R. E. Bittner


C13.5 The power of high resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
S. El Chehadeh-Djebbar
, L. Faivre, A. Monlca, B. Aral, C. Missirian, C. Popovic, P. Rump, A. van Essen, A. Frances, N. Gigot, V. Cusin, A. Masurel-Paulet, M. Payet, C. Ragon, N. Marle, A. Mosca-Boidron, F. Huet, I. Balikova, J. Teyssier, F. Mugneret, C. Thauvin-Robinet, P. Callier

C14.5 Risk predictions from direct-to-consumer personal genome testing: What do consumers really learn about common disease risk?
R. R. J. Kalf
, R. Mihaescu, P. de Knijff, R. C. Green, A. C. J. W. Janssens

C15.5 Mutation in ARID1B as a frequent cause of intellectual disability
A. B. Ekici
, J. Hoyer, C. Petsch, I. Goehring, C. Zweier, A. Wiesener, M. Zweier, A. Rauch1,2, A. Reis

C16.5 De novo copy number variations causing mental retardation show a significant paternal origin bias and are associated with increased paternal age
J. Y. Hehir-Kwa
, B. Rodríguez-Santiago, L. E. Vissers, N. de Leeuw, R. Pfundt, L. A. Pérez-Jurado, J. A. Veltman

C17.5 A new human ichthyosis gene revealed by the canine genetic model
A. Grall, E. Guaguère, S. Planchais, E. Bourrat, C. Hitte, I. Hausser, M. Le Gallo, C. Derbois, L. Lagoutte, F. Degorce-Rubiales, E. Bensignor, A. Thomas, J. Fontaine, M. Lathrop, F. Galibert, J. Fischer, C. André


C13.6 Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
S. Vergult
, D. Krgovic, B. Loeys, S. Lyonet, A. Liedén, B. Anderlid, F. Sharkey, S. Joss, G. Mortier, B. Menten

C14.6 Clinical, biochemical and molecular overview of the Ehlers-Danlos Syndrome, vascular type: the Ghent experience
S. Symoens
, F. Malfait, P. Vlummens, J. De Backer, A. De Paepe

C15.6 Haploinsufficiency of microRNA-137 is associated with intellectual disability in patients with overlapping deletions in 1p21.3
M. H. Willemsen
, L. Kirkels, M. Mastebroek, A. Vallès, N. OldeLoohuis, A. Kos, W. Wissink-Lindhout, A. de Brouwer, M. Coppens-Hofman, H. Rensen, B. Hamel, H. van Bokhoven, A. Aschrafi, T. Kleefstra

C16.6 Functional validation of GWAS loci for platelet traits in Danio rerio reveals new regulators of haematopoiesis
J. Serbanovic-Canic
, A. Cvejic, N. Soranzo, D. L. Stemple, K. Freson, W. H. Ouwehand

C17.6 siRNA silencing of proteasome maturation protein (POMP) expression activates the unfolded protein response and constitutes a model for KLICK syndrome
J. Dahlqvist
, H. Törmä, J. Badhai, N. Dahl