| | C12 Mental retardation
Congress Hall | C13 Cytogenetics
Room F1+F2+F3 | C14 Mutation mechanism
Room F4+F5 | C15 Beyond GWAS
Room G1+G2 | C16 Growth and vascular disorders
Room G3 |
| 10.45 | C12.1 Homozygosity Mapping of Primary Microcephaly in 112 Iranian Families: Novel Mutations and Phenotypes
H. Darvish, S. Esmaeeli Nieh, G. Bahrami Monajemi, M. Mohseni, F. Behjati, S. Ghasemi Firouzabadi, I. Bahman, P. Jamali, S. Azimi, F. Mojahedi, A. Dehghan, Y. Shafeghati, A. Jankhah, M. Falah, M. Soltani Banavandi, M. Ghani Kakhki, M. Garshasbi, S. Abedini, s. Banihashemi, s. arjangi, F. Rakhshani, A. Naghavi, A. Tzschach, H. Neitzel, H. Ropers, A. W. Kuss, K. Kahrizi, H. Najmabadi | C13.1 A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
F. Béna, S. Gimelli, E. Migliavacca, N. Brun-Druc, K. Buiting, S. E. Antonarakis, A. Sharp | C14.1 Dysostin, a new gene involved in CDG and affecting pH homeostasis
F. Foulquier, J. Jaeken, M. Amyere, R. Zeevaert, L. Keldermans, M. Vikkula, E. Van Schaftingen, G. Matthijs | C15.1 Genome-wide association study of regional brain volume suggests involvement of known psychiatry candidate genes, identifies new candidates for psychiatric disorders and points to potential modes of their action
A. Arias-VÃ squez, B. Franke, J. Veltman, H. Brunner, P. Hagoort, G. Fernandez | C16.1 The revised Ghent nosology for the Marfan syndrome (MFS)
B. L. Loeys, J. De Backer, B. Callewaert, H. Dietz, A. De Paepe |
| 11.00 | C12.2 Combination of linkage mapping and microarray-expression analysis identifies NF-κB signalling defect as a novel cause for autosomal recessive mental retardation
O. Philippe, M. Rio, A. Carioux, J. Plaza, P. Guigue, F. Molinari, N. Boddaert, C. Bole-Feysot, P. Nitschke, A. Smahi, A. Munnich, L. Colleaux | C13.2 Recurrent Chromosomal Translocations Mediated by Genomic Interchromosomal NAHR
S. W. Cheung, P. Stankiewicz, A. M. Breman, J. Wiszniewska, L. M. Cooper, S. T. South, S. Kang, A. Patel, J. R. Lupski, Z. Ou | C14.2 A new inborn error of glycosylation due to DPM2 deficiency
V. Race, R. Bammens, W. Vleugels, R. Barone, A. Fiumara, F. Foulquier, G. Matthijs | C15.2 NXF/ARNT2/SIM2, RET Expression regulation and specific HSCR Associated DNA Variants
R. M. W. Hofstra, Y. Sribudiani, M. Metzger, J. Osinga, A. Rey | C16.2 Acquired uniparental isodisomy as a common somatic 2nd-hit explains multifocality of glomuvenous malformations
M. Vikkula, V. Aerts, F. Duhoux, P. Brouillard, M. Wassef, O. Enjolras, J. Mulliken, H. Antoine-Poirel, O. Devuyst, L. Boon, M. Amyere |
| 11.15 | C12.3 Targeted next generation sequencing identifies a mutation associated with cerebellar hypoplasia and mental retardation with quadrupedal locomotion
S. I. Gulsuner, K. Bilguvar, M. Tan, U. Tan, M. Gunel, T. Ozcelik | C13.3 The interpretation of copy number gains detected by high resolution array CGH in routine diagnostics; a practical guideline
C. M. A. van Ravenswaaij-Arts, N. M. Hanemaaijer, G. van der Vries, T. Dijkhuizen, R. Hordijk, A. van Essen, B. Leegte, K. Kok, B. Sikkema-Raddatz | C14.3 A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and an altered epidermal proteasome distribution in KLICK genodermatosis
J. Dahlqvist, J. Klar, N. Tiwari, J. Schuster, H. Törmä, J. Badhai, R. Pujol, M. van Steensel, T. Brinkhuijzen, L. Gijezen, A. Chaves, G. Tadini, A. Vahlquist, N. Dahl | C15.3 Genomewide association of single nucleotide polymorphisms with subcutaneous adipose tissue gene expression.
A. J. Walley, M. F. Falchi, J. Andersson, P. Jacobson, A. Bibi, M. Jarnas, A. Siddiq, L. Sjostrom, L. M. S. Carlsson, P. Froguel | C16.3 Lethal Vascular Syndrome from South India due to a Novel Mutation in Fibulin 4
S. Nampoothiri, M. Kappanayil, A. De Paepe, B. Loeys, L. Van Laer, R. Kannan, M. Faiyaz-Ul-Haque, R. Krishna Kumar |
| 11.30 | C12.4 The Arg164X mutation in SAMHD1 leads to a novel variant of Aicardi-Goutières syndrome by modulating cytokine expression
M. du Moulin, H. Thiele, K. Barczyk, C. George, M. Frosch, W. Schwindt, J. Roth, P. Nuernberg, F. Rutsch | C13.4 Paternal origin of de novo constitutional t(11;22)(q23;q11)
T. Ohye, H. Inagaki, H. Kogo, M. Tsutsumi, T. Kato, M. Tong, M. V. E. Macville, L. Medne, E. H. Zackai, B. S. Emanuel, H. Kurahashi | C14.4 Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair
V. Cordeddu, E. Di Schiavi, A. Ma'ayan, A. Sarkozy, V. Fodale, S. Cecchetti, G. Zampino, L. Mazzanti, M. C. Digilio, S. Martinelli, E. Flex, F. Lepri, D. Bartholdi, K. Kutsche, G. B. Ferrero, A. Selicorni, C. Anichini, C. Rossi, R. Tenconi, M. Zenker, B. Dallapiccola, R. Iyengar, P. Bazzicalupo, B. D. Gelb, M. Tartaglia | C15.4 Mutations of VANGL1 in patients with neural tube defects
P. De Marco, C. M. Bosoi, E. Merello, A. Reynolds, S. Lachance, J. R. McDearmid, P. Gros, A. G. Bassuk, A. Cama, K. Zoha, V. Capra | C16.4 A new locus for a syndromic form of Thoracic Aortic Aneurysms maps to chromosome 15q
I. M. B. H. van de Laar, R. A. Oldenburg, B. de Graaf, J. A. M. Verhagen, Y. M. Hoedemaekers, I. Frohn-Mulder, J. Roos-Hesselink, J. M. Kros, B. A. Oostra, M. W. Wessels, A. M. Bertoli-Avella |
| 11.45 | C12.5 Systematic mutation search in families with X-linked mental retardation by next-generation sequencing
V. M. M. Kalscheuer, W. Chen, S. Haas, H. Hu, A. Emde, C. Menzel, M. Bienek, T. Zemojtel, R. Ullmann, S. O'Keeffe, M. Vingron, K. Wrogemann, A. Tzschach, A. de Brouwer, H. van Bokhoven, N. Lebrun, M. Raynaud, H. Van Esch, H. H. Ropers | C13.5 ALT-immortalized human cells are critically dependent on the Fanconi anemia protein FANCD2 to limit BLM-dependent recombination and amplification of telomeric repeat DNA
H. Root, A. Larsen, D. Bazett-Jones, S. Meyn | C14.5 Another gene for autosomal recessive ALX-related frontonasal dysplasias: Disruption in ALX1 (CART1) causes anophthalmia and severe facial clefting
E. Uz, Y. Alanay, D. Aktas, I. Vargel, S. Gucer, G. Tuncbilek, F. von Eggeling, E. Yilmaz, O. Deren, N. Posorski, H. Ozdag, T. Liehr, S. Balci, M. Alikasifoglu, B. Wollnik, N. A. Akarsu | C15.5 Functional analysis of fatty acid desaturase (FADS) gene cluster polymorphisms
E. Lattka, S. Eggers, G. Moeller, K. Heim, M. Weber, D. Mehta, H. Prokisch, J. Adamski, T. Illig | C16.5 Loss of function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets
B. Lorenz-Depiereux, D. Schnabel, D. Tiosano, G. Häusler, T. M. Strom |
| 12.00 | C12.6 Deep sequencing leads to the identification of 3 independent mutations in the ST3GAL3 gene in patients with autosomal recessive intellectual disability from 3 consanguineous Iranian families
A. W. Kuss, H. Hu, M. Garshasbi, I. Bahman, S. Ghadami, M. M. Motazacker, L. Abbasi-Moheb, S. Esmaeeli-Nieh, L. Puettmann, M. Mohseni, M. J. Soltani Banavandi, H. Darvish, P. Jamali, P. Nikoui, F. Soleimani, K. Kahrizi, A. Tzschach, W. Chen, H. Ropers, H. Najmabadi | C13.6 Delineating complex genomic architecture involving chromosome segmental duplications
W. A. Khan, J. H. M. Knoll, P. K. Rogan | C14.6 High-throughput mutation screening in combination with cellular complementation of rare variants aid gene identification in mitochondrial disorders
K. Danhauser, F. Madignier, M. Herzer, T. Haack, B. Haberberger, P. Freisinger, B. Rolinski, R. Horvath, H. Mayr, W. Sperl, V. Tiranti, M. Tesarova, B. Plecko, S. Biskup, D. Boehm, A. Giovanetti, B. Garavaglia, M. Zeviani, T. Meitinger, H. Prokisch | C15.6 Mutation and functional analysis of the IRAK-M gene in asthmatic patients.
S. Sanna, C. A. Caria, F. Anedda, A. Loi, F. Virdis, N. Olla, L. Balaci, G. Sole, M. Uda, S. Naitza | C16.6 Epigenotype-phenotype correlations in Silver-Russell syndrome
E. L. Wakeling, M. Alders, J. Bliek, H. Bullman, D. H. Lim, D. J. Mackay, M. M. Van Haelst, I. K. Temple, J. M. Cobben |
