ESHG 2008 - Concurrent Sessions C06-C010

Monday, June 2, 2008
Concurrent Sessions C06 - C10
 

* ESHG Young Investigator Award candidates - Profiles available here

15.00 - 16.30

C06 Clinical Genetics II

C07 Molecular and biochemical basis of disease - Neurogenetics

C08 Genetic analysis, linkage, and association - Genomewide association studies

C09 Preimplantation and prenatal genetic diagnosis

C10 Cancer genetics
15.00 C06.1 Mutations in the Cyclin family member FAM58A cause a novel X-linked dominant disorder characterized by syndactyly, telecanthus, anogenital and renal malformations (STAR syndrome)
J. Kohlhase1, D. Boehm1, F. J. Kaiser2, S. Kaulfuss3, W. Borozdin1, K. Buiting4, P. Burfeind3, J. Boehm5, F. Barrionuevo5, A. Craig5, K. Borowski6, K. Keppler-Noreuil6, T. Schmitt-Mechelke7, B. Steiner8, D. Bartholdi8, G. Mortier9, R. Sandford10, B. Zabel11, A. Superti-Furga11, S. Unger5,11;
1Center for Human Genetics Freiburg, Freiburg, Germany, 2University Clinic Schleswig-Holstein, Campus Luebeck, Luebeck, Germany, 3Human Genetics, University of Goettingen, Goettingen, Germany, 4University Clinic Essen, Essen, Germany, 5Human Genetics, University of Freiburg, Freiburg, Germany, 6Medical Genetics, University of Iowa, Iowa City, IA, United States, 7Neuropediatrics, Kinderspital Luzern, Luzern, Switzerland, 8Medical Genetics, University of Zurich, Schwerzenbach, Switzerland, 9Medical Genetics, University of Ghent, Ghent, Belgium, 10Medical Genetics, University of Cambridge, Cambridge, United Kingdom, 11Pediatrics, University Clinic Freiburg, Freiburg, Germany.		 C07.1* Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation
F. Molinari1, F. Foulquier2, P. S. Tarpey3, W. Morelle2, J. Teague3, S. Edkins3, P. A. Futreal3, M. R. Stratton3, G. Turner4, G. Matthijs5, J. Gecz6, A. Munnich1, L. Colleaux1;
1INSERM U781 and Université Paris Descartes, Paris, France, 2UMR CNRS/USTL 8570, Lille, France, 3Wellcome Trust Sanger Institute, Cambridge, United Kingdom, 4The Gold Service, Adelaide, Australia, 5Laboratory for Molecular Diagnostics, Center for Human Genetics, Leuven, Belgium, 6Department of Pediatrics and School of Molecular & Biomedical Science, University of Adelaide, Adelaide, Australia.		 C08.1 The role of the interferon regulatory factor 5 gene in autoimmune diseases
G. Kristjansdottir1, S. Sigurdsson1, J. Sandling1, V. Dideberg1,2, H. Göring3, L. Milani1, V. Bours2, F. Matesanz4, L. Rönnblom5, A. C. Syvänen1;
1Molecular medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, 2Department of Human Genetics, CHU de Liège, Liège, Belgium, 3Department of Genetics Southwest Foundation for Biomedical Research, San Antonio, TX, United States, 4Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain, 5Section of Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.		 C09.1 QF-PCR as a stand-alone prenatal test for targeted referral groups; results from the first year of a new UK diagnostic service
K. Mann1, R. Ellis2, J. Burbridge2, M. Holloway3, S. Edwards3, D. Morrogh3, J. Waters3, C. Mackie Ogilvie1;
1Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom, 2NWT Regional Genetics Service (KGC), London, United Kingdom, 3NEL Regional Cytogenetics Laboratory (Gt Ormond St Hospital), London, United Kingdom.		 C10.1 BRCA1 mutations and prostate cancer in Poland
J. Lubinski1, C. Cybulski1, B. Gorski1, J. Gronwald1, T. Huzarski1, T. Byrski1, T. Debniak1, A. Jakubowska1, D. Wokolorczyk1, B. Gliniewicz1, A. Sikorski1, M. Stawicka2, D. Godlewski2, Z. Kwias3, A. Antczak4, K. Krajka5, W. Lauer6, M. Sosnowski7, P. Sikorska-Radek8, K. Bar9, R. Klijer10, Z. Romuald1, B. Malkiewicz11, A. Borkowski7, T. Borkowski9;
1Pomeranian Medical University, Szczecin, Poland, 2Prophylactic and Epidemiology Center, Poznan, Poland, 3Medical University in Poznan, Poznan, Poland, 4Medical University of Lodz, Lodz, Poland, 5Medical University of Gdansk, Gdansk, Poland, 6Institut für Biomedizinische Technologien, Aachen, Germany, 7Medical University, Warsaw, Poland, 8Medical University, Poznan, Poland, 9Medical University, Lublin, Poland, 10University Hospital of Lublin, Lublin, Poland, 11Medical University, Wroclaw, Poland.
15.15 C06.2* KCNQ2 mutations and implications for counselling and perinatal care in Benign Familial Neonatal Convulsions
N. Verbeek1, M. Poot1, W. Arts2, K. Flipsen-ten Berg1, B. Gunning3, D. Lindhout1, M. van Kempen1;
1Division of Biomedical Genetics, Utrecht, The Netherlands, 2Erasmus MC, Rotterdam, The Netherlands, 3Epilepsy Centre Kempenhaeghe, Heeze, The Netherlands.		 C07.2 Influence of Friedreich ataxia GAA non-coding repeats expansions on pre-mRNA processing
F. Pagani;
ICGEB, Trieste, Italy.		 C08.2* Elevated expression of serotonin receptor type 3 genes may contribute to irritable bowel syndrome with diarrhea
J. Kapeller1, L. Houghton2, J. Walstab3, D. Möller1, H. Bönisch3, F. Autschbach4, N. Gassler5, C. Fischer1, P. Whorwell2, W. Atkinson2, C. Fell2, G. Rappold1, B. Niesler1;
1Institute of Human Genetics, Heidelberg, Germany, 2University of Manchester, Manchester, United Kingdom, 3Institute of Pharmacology and Toxicology, Bonn, Germany, 4Institute of Pathology, Heidelberg, Germany, 5Institute of Pathology, Aachen, Germany.		 C09.2 Chromosomal abnormalities detectable by prenatal screenings cover only half of the significant fetal chromosomopathy: an evaluation based on 115’576 invasive prenatal diagnoses
F. Maggi1, F. R. Grati1, A. Barlocco1, M. Di Lernia2, B. Grimi1, S. De Toffol1, G. Frascoli1, A. M. Di Meco1, R. Liuti1, S. Milani1, A. Trotta1, S. Babucci3, F. Dulcetti1, A. M. Ruggeri1, G. Simoni1;
1Research and Development, Cytogenetics and Molecular Biology, TOMA Laboratory, Busto Arsizio, Italy, 2Clinical Chemistry and Tossicology, TOMA Laboratory, Busto Arsizio, Italy, 3Clinical Chemistry and Tossicology, Cytogenetics and Molecular Biology, TOMA Laboratory, Busto Arsizio, Italy.

C10.2* Genomic differences between retinoma and retinoblastoma
M. Amenduni1, K. Sampieri1, F. Ariani1, M. Bruttini1, M. A. Mencarelli1, M. C. Epistolato2, P. Toti2, S. Lazzi2, A. Marozza1, F. Mari1, T. Hadjistilianou3, S. De Francesco3, A. Acquaviva4, A. Renieri1;
1Medical Genetics, Siena, Italy, 2Department of human pathology and oncology, Siena, Italy, 3Retinoblastoma referral center,Department of ophtalmology, Siena, Italy, 4Department of pediatrics,obstetrics and reproductive medicine,italian retinoblastoma registry, Siena, Italy.
15.30

C06.3 Clinical features of maternal uniparental disomy 14 are also present in patients with an epimutation and a deletion of the imprinted DLK/GTL2 gene cluster
G. Gillessen-Kaesbach1, D. Kamber2, J. I. Martin-Subero3, W. Lieb1, P. Terhal4, B. Albrecht2, E. Rossier5, D. Rita6, S. Das7, S. Purmann1, S. Groß2, C. Lich2, R. Siebert8, B. Horsthemke2, K. Buiting2;
1Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany, 2Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, 3Institut für Humangenetik, Christian Albrecht Universität Kiel, Kiel, Germany, 4Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands, 5Institut für Humangenetik, Universitätsklinikum Tübingen, Tübingen, Germany, 6The Park Site Center, Park Ridge, Illinois, IL, United States, 7Department Of Human Genetics, University of Chicago, Chicago, IL, United States, 8Institut für Humangenetik, Christian Albrecht Universität Kiel, Kiel, Germany.

C07.3* Mechanisms of MECP2 function underlying Rett syndrome as revealed from overexpression and knock-down systems in vitro
M. Vecsler1,2, A. J. Simon1,3, G. Rechavi1,3, N. Amariglio1,3, E. Gak1,2;
1Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, 2Genetics Institute, Sheba Medical Center, Tel Hashomer, Israel, 3Cancer Research Center, Institute of Hematology, Sheba Medical Center, Tel Hashomer, Israel.

 C08.3* Genome-wide association scan for serum TSH levels in 2375 Sardinians
S. Sanna1, L. A. Lopez2, G. Usala1, G. Ceresini3, B. D. Mitchell4, M. G. Pilia1, M. G. Piras1, N. Sestu1, A. Maschio1, F. Busonero1, M. Dei1, A. Mulas1, L. Crisponi1, T. Tanaka5, S. Bandinelli3, A. Loi1, A. Prinzis6, S. Mariotti6, L. Ferrucci5, G. R. Abecasis7, A. R. Shuldiner4, D. Schlessinger2, M. Uda1, R. Nagaraja2, S. Naitza1;
1Istituto di Neurogenetica e Neurofarmacologia, CNR, Monserrato, Italy, 2Laboratory of Genetics, National Institute on Aging, Baltimore, MD, United States, 3Riabilitazione Geriatrica, Azienda Sanitaria Firenze, Firenze, Italy, 4Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD, United States, 5Clinical Research Branch, National Institute on Aging, Baltimore, MD, United States, 6Endocrinologia, Dipartimento di Medicina "M. Aresu", Universita' di Cagliari, Cagliari, Italy, 7Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, United States.

C09.3 Ten years clinical application of preimplantation genetic diagnosis (PGD) for β-haemoglobinopathies, cystic fibrosis, X-linked and rare monogenic diseases: a Greek experience
J. Traeger-Synodinos1, C. Vrettou1, M. Tzetis1, A. Destouni1, G. Kokkali1,2, S. Davies3, M. Mastrominas3, G. Palmer4, D. Stavrou2, K. Pantos2, E. Kanavakis1;
1Medical Genetics, Athens University, Athens, Greece, 2Centre for Human Reproduction, Genesis Hospital, Athens, Greece, 3Embryogenesis Centre for Reproduction & Fertility Studies, Athens, Greece, 4Mitera IVF Unit, Mitera Maternity Hospital, Athens, Greece.

C10.3 High resolution analysis of chromosomal changes in colorectal tumors matched with normal tissues from the same patients using 500,000 SNPs
 G. Brown1,2, D. L. Worthley3,4, G. P. Young3, D. Brookes1,2, J. Ross1,2, G. N. Hannan1,2;
1CSIRO Preventative Health Flagship, North Ryde, NSW, Australia, 2CSIRO Molecular and Health Technologies, North Ryde, NSW, Australia, 3Flinders Medical Centre, Bedford Park, SA, Australia, 4Queensland Institute of Medical Research, Herston, Qld, Australia.
15.45 C06.4* Capillary Malformation - Arteriovenous Malformation: clinical and molecular aspects
N. Revencu1,2, L. M. Boon1,3, J. B. Mulliken4, O. Enjolras5, M. Cordisco6, P. E. Burrows4, P. Clapuyt7, F. Hammer7, J. Dubois8, E. Baselga9, D. Chitayat10, M. Vikkula1;
1de Duve Institute, Brussels, Belgium, 2Center for Human Genetics, Cliniques universitaires Saint Luc, Brussels, Belgium, 3Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires Saint Luc, Brussels, Belgium, 4Vascular Anomalies Center, Children's Hospital, Boston, MA, United States, 5Centre Multidisciplinaire des Angiomes de l’enfant, Hôpital d’enfants Armand-Trousseau, Paris, France, 6Department of Pediatric Dermatology, Hospital de Pediatria Dr. J.P. Garrahan, Buenos Aires, Argentina, 7Department of Radiology, Cliniques universitaires Saint Luc, Brussels, Belgium, 8Department of Medical Imaging, Sainte-Justine Mother-Child University Hospital, Montreal, QC, Canada, 9Hospital de la Santa Creu I Sant Pau, Barcelona, Spain, 10Medical Genetics Program Mount Sinai Hospital, Toronto, ON, Canada.		 C07.4 Mutations in UBE1 are associated with X-linked infantile spinal muscular atrophy (XL-SMA) and cause decreased gene expression in patients and carrier females
A. Meindl1, J. Ramser1, C. Lenski1, M. von Rhein2, B. Wirth3, K. O. Yariz4, M. E. Ahearn4, L. Baumbach-Reardon4;
1Department of Obstetrics and Gynecology, Technical University Munich, Munich, Germany, 2University Children's Hospital Mainz, Mainz, Germany, 3Institute of Human Genetics, University of Cologne, Cologne, Germany, 4Miller School of Medicine, University of Miami, Miami, FL, United States.

C08.4 BCL11A is associated with persistent HbF and ameliorates the β-thalassemia phenotype
M. Uda1, R. Galanello2, S. Sanna1, G. Lettre3,4, V. G. Sankaran3,5, G. Usala1, F. Busonero1, A. Maschio1, S. Lai1, L. Crisponi1, S. Naitza1, I. Asunis1, M. Deiana1, M. Marongiu1, L. Porcu1, M. Lovicu1, R. Nagaraja6, L. Perseu1, S. Satta2, P. Moi2, S. H. Orkin3,5, G. R. Abecasis7, D. Schlessinger6, J. N. Hirschhorn3,4, A. Cao1;
1Istituto di Neurogenetica e Neurofarmacologia, INN, Consiglio Nazionale delle Ricerche, CNR, Monserrato, Cagliari, Italy, 2Clinica Pediatrica, Ospedale Microcitemico, Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Cagliari, Italy, 3Children’s Hospital of Boston, Boston, MA, United States, 4Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA, United States, 5Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, United States, 6Gerontology Research Center, National Institute on Aging, Baltimore, MD, United States, 7Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, United States.

C09.4 Evaluation and validation of Preimplantation Genetic Diagnosis (PGD) by PCR analysis: comparison of the blastomere and corresponding embryo genotype
J. Herbergs1,2, M. Drusedau1, H. Smeets1,2, C. De Die-Smulders1, J. Dumoulin1, J. Evers1, J. Dreesen1,2, J. Geraedts1,2;
1Academic Hospital Maastricht, Maastricht, The Netherlands, 2Maastricht University, Maastricht, The Netherlands.

 C10.4* Leukemia biochip analysis of chromosomal translocations in childhood leukemia in Russia using hybridization and on-chip PCR approaches.
N. A. Guseva, O. S. Nurutdinova, A. V. Chudinov, E. N. Timofeev, S. V. Pankov, A. S. Zasedatelev, T. V. Nasedkina;
Engelhardt Institute of Molecular Biology RAS, Moscow, Russian Federation.
16.00 C06.5 A novel, autosomal dominant, Pseudoxanthoma Elasticum-like phenotype in a five-generation family
P. D. Turnpenny1, O. M. Vanakker2, L. Costrop2, A. de Paepe2, L. Schurgers3, R. Florijn4, F. M. Pope5, M. James6, S. Tomkins6, P. Newman7, S. Ellard8, E. Young8, M. L. P. Robert1;
1Peninsula Clinical Genetic Service, Exeter, United Kingdom, 2Center for Medical Genetics, Ghent University, Ghent, Belgium, 3VitaK & CARIM, University of Maastricht, Maastricht, The Netherlands, 4The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands, 5Northwick Park Health Institute, London, United Kingdom, 6South Western Regional Genetics Service, Bristol, United Kingdom, 7Dept Histology, Royal Devon & Exeter Hospital, Exeter, United Kingdom, 8Molecular Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom.		 C07.5 VLDLR (very low density lipoprotein receptor) is the first gene implicated in cerebellar hypoplasia and quadrupedal locomotion in humans
T. H. Ozcelik1, N. Akarsu2, E. Uz1, S. Caglayan1, S. Gulsuner1, O. E. Onat1, M. Tan3, U. Tan4;
1Bilkent University, Ankara, Turkey, 2Hacettepe University, Ankara, Turkey, 3Baskent University, Ankara, Turkey, 4Cukurova University, Adana, Turkey.		 C08.5* Genome-wide association study and follow up: identification of novel coeliac disease determinants related to the immune response
A. Zhernakova1, K. A. Hunt2, G. Turner3, L. Franke1, G. Heap2, J. Romanos4, F. Takeuchi5, G. Trynka4, C. J. J. Mulder6, M. C. Wapenaar4, P. Deloukas5, R. McGinnis5, R. McManus3, D. A. van Heel2, C. Wijmenga4;
1Complex Genetics Section, DBG-Dept Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands, 2Institute of Cell and Molecular Science, Queen Mary University of London, London, United Kingdom, 3Departments of Clinical Medicine, Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland, 4Genetics Department, University Medical Center and Groningen University, Groningen, The Netherlands, 5Wellcome Trust Sanger Institute, Hinxton, United Kingdom, 6Department of Gastroenterology and Department of Pediatric Gastroenterology, VU Medical Center, Amsterdam, The Netherlands.		 C09.5 Multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD)
M. De Rycke1,2, C. Spits2, W. Verpoest3, K. Sermon2, J. Vanderelst3, I. Liebaers1,2;
1Centre for Medical Genetics UZ Brussel, Brussels, Belgium, 2Department of embryology and genetics Vrije Universiteit Brussel, Brussels, Belgium, 3Centre for Reproductive Medicine, UZ Brussel, Brussels, Belgium.

C10.5* Disruption of Ikaros function by the CALM/AF10 fusion protein might be responsible for abortive lymphoid development in CALM/AF10 positive leukemia
P. A. Greif, B. Tizazu, A. Krause, E. Kremmer, S. K. Bohlander;
HelmholtzZentrum München, München, Germany.
16.15

C06.6 Clinical phenotypes and outcome of 101 LMNA gene mutation carriers
N. Marziliano1, M. Pasotti1, M. Grasso1, A. Pilotto1, E. Serafini1, B. De Giorgio1, M. Diegoli2, A. Brega3, E. Arbustini1;
1Fondazione IRCCS Policlinico San Matteo, PAVIA, Italy, 2University of Pavia, PAVIA, Italy, 3University of Milan, MILANO, Italy.

 C07.6 The utilization of T3/T4 screening of males with MR of unknown etiology to identify patients with Allan-Herndon-Dudley syndrome
T. Wood1, D. Hobson2, B. Browning1, C. Rogers1, C. Skinner1, H. H. Ardinger3, F. Collins4, A. Aronsky5, M. J. Friez1, C. E. Schwartz1;
1Greenwood Genetic Center, Greenwood, SC, United States, 2Wake Forest University, Winston-Salem, NC, United States, 3Children's Mercy Hospitals and Clinics, Kansas City, MO, United States, 4Western Sydney Genetic Program, Sydney, Australia, 5Newark New Jersey, Newark, NJ, United States.		 C08.6* Genome-wide association and functional studies identify SLC2A9 (GLUT 9) as a novel uric acid transporter influencing serum urate concentration, urate excretion and gout disease
 V. Vitart1, I. Rudan2, C. Hayward1, N. Gray1, C. Palmer3, I. Kolcic4, J. Wilson2, J. Floyd5, O. Polasek4, Z. Biloglav4, L. Zgaga4, A. Vorko-Jovic4, J. Graessler6, N. Hastie1, H. Campbell2, A. Wright1;
1MRC Human Genetics Unit, Edinburgh, United Kingdom, 2Faculty of Medicine, Edinburgh, United Kingdom, 3Medical School, Dundee, United Kingdom, 4Faculty of Medicine, Zagreb, Croatia, 5University of Edinburgh, Edinburgh, United Kingdom, 6University of Technology, Dresden, Germany.

C09.6* Fluorescence In-Situ Hybridisation using Oligonucleotide probes (Oligo-FISH): a new strategy for Preimplantation Genetic Screening (PGS).
L. Robertson1, S. Doubravska1, M. Grigorova1, D. K. Griffin2, A. H. Handyside1, A. R. Thornhill1;
1Bridge Genoma, London, United Kingdom, 2University of Kent, Canterbury, United Kingdom.

 C10.6 Assessment of X Chromosome Inactivation Pattern in BRCA Mutation Carriers: Evidence for an Effect of Chemotherapy
M. Miozzo1, C. Allemani2, F. R. Grati3,1, S. M. Tabano1, B. Peissel4, P. Antonazzo5, V. Pensotti6, S. M. Sirchia1, P. Radice6,7, S. Manoukian4;
1Medical Genetics, Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy, 2Analytical Epidemiology Unit, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy, 3Units of Research and Development, Cytogenetics and Molecular Biology, TOMA Laboratory, Busto Arsizio, Italy, 4Medical Genetics Unit, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy, 5Institute of Obstetrics and Gynecology I “L. Mangiagalli”, University of Milan, Fondazione IRCCS Policlinico, Mangiagalli and Regina Elena, Milan, Italy, 6Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy, 7Genetic Susceptibility to Cancer Unit, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
  * ESHG Young Investigator Award candidates - Profiles available here