Concurrent Sessions C13 - C17 - Monday, June 8 - 13.15 - 14.45 hrs

RoomClyde AuditoriumHall 5Hall 2Lomond AuditoriumHall 1Forth Room

C13. Fundamental insights in structural genomics

C14. Challenges in genetic counselling

C15. Network and functional analysis in intellectual disability

C16. Growth failure and microcephaly

C17. Epigenetic control of gene expression

C18. Metabolic and renal disorders



Human-specific gene evolution and diversity of the chromosome 16p11.2 autism CNV

Giuliana Giannuzzi, X. Nuttle, M.H. Duyzend, P.H. Sudmant, O. Penn, G. Chiatante, M. Malig, J. Huddleston, L. Denman, L. Harshman, J. Chrast, C. Baker, A. Raja, K. Penewit, F. Antonacci, A. Reymond, E.E. Eichler;
Lausanne, Switzerland


External Quality Assessment of Genetic Counselling: experiences with the first pilot assessment

Conny M.A. van Ravenswaaij-Arts, C. van Asperen, E. Dequeker, L. Tranebjaerg, L. Garavelli, B. Peterlin, B. Cope, H. Skirton, R. Hastings, ESHG Genetic Services Quality Committee;
Groningen, Netherlands


Genome-wide association study of 200,000 individuals identifies 18 genome-wide significant loci and provides biological insight into human cognitive function

Tonu Esko*, on the behalf of Social Science Genetic Association Consortium (SSGAC);
Tartu, Estonia


Systematic evaluation of patients with idiopathic short stature using whole exome sequencing

Christian T. Thiel, N.N. Hauer, S. Schuhmann, E. Schöller, M.T. Wittmann, S. Uebe, A.B. Ekici, H. Sticht, H. Dörr, A. Reis;
Erlangen, Germany


RNF12 is essential for X-inactivation in female mouse embryonic stem cells, is required for female mouse development, and might be a target for future therapies to treat X-linked disorders in females: evidence from a mouse knockout model

Tahsin Stefan S. Barakat*, J. Gribnau;
Rotterdam, Netherlands


Disassembly of MINOS complex by CHCHD10 mutations promotes loss of mitochondrial cristae with defects in mitochondrial genome maintenance and apoptosis

E. Genin, M. Plutino, S. Bannwarth, E. Villa, E. Cisneros-Barroso, M. Roy, B. Ortega-Vila, K. Fragaki, F. Lespinasse, E. Pinero-Martos, G. Augé, D. Moore, F. Burté, S. Lacas-Gervais, Y. Kageyama, P. Yu-Wai-Man, H. Sesaki, J. Ricci, C. Vives-Bauza, Véronique Paquis-Flucklinger;
Nice, France



The impact and activity of mobile elements within the genome

Jayne Y. Hehir-Kwa, D. Thung, V. Guryev, W.P. Kloosterman, T. Marschall, K. Ye, J.A. Veltman;
Nijmegen, Netherlands


Hereditary breast and ovarian cancer syndrome: successful, large-scale implementation of a group-based approach to genetic counseling.

Patrick R. Benusiglio, M. Di Maria, A. Jouinot, B. Claret, D. Boinon, D. Lejri, O. Caron;
Villejuif, France


Systematic phenotype-based deconvolution of intellectual disability disorders into biologically coherent modules

Christiane Zweier, K. Kochinke, B. Nijhof, M. Fenckova, P. Cizek, F. Honti, S. Keerthikumar, M.A.W. Oortveld, T. Kleefstra, J.M. Kramer, C. Webber, M.A. Huynen, A. Schenck;
Erlangen, Germany


Mutations in the core NHEJ components LIG4 and XRCC4 result in microcephalic primordial dwarfism

Jennie E. Murray*, M. van der Burg, H. Ijspeert, P. Carroll, Q. Wu, T. Ochi, A. Leitch, E.S. Miller, B. Kysela, A. Jawad, A. Bottani, F. Brancati, M. Cappa, V. Cormier-Daire, C. Deshpande, E. Ali Faqeih, G. Graham, E. Ranza, T.L. Blundell, A.P. Jackson, G.S. Stewart, L.S. Bicknell;
Edinburgh, United Kingdom


Pattern of X chromosome inactivation across human tissues - insights from population-scale and single-cell RNA sequencing

Taru Tukiainen*, A. Villani, A. Kirby, D. DeLuca, R. Satija, A. Byrnes, J. Maller, T. Lappalainen, The GTEx Project Consortium, A. Regev, K. Ardlie, D. MacArthur;
Boston, United States


COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Laura Kremer*, G. Brea-Calvo, T.B. Haack, D. Karall, A. Ohtake, F. Invernizzi, R. Carrozzo, S. Dusi, C. Fauth, S. Scholl-Bürgi, E. Graf, U. Ahting, N. Resta, N. Laforgia, D. Martinelli, D. Verrigni, Y. Okazaki, M. Kohda, P. Freisinger, T. Strom, T. Meitinger, C. Lamperti, A. Lacson, P. Navas, J. Mayr, E. Bertini, K. Murayama, M. Zeviani, D. Ghezzi, H. Prokisch;
Neuherberg, Germany



Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Maria Nicla Loviglio, M. Leleu, G. Giannuzzi, K. Mannik, E. Migliavacca, I. Roberts-Caldeira, I. van der Werf, 16p11.2 European Consortium, J.S. Beckmann, S. Jacquemont, J. Rougemont, A. Reymond;
Lausanne, Switzerland


Experiences of systematic genetic testing involving women recently diagnosed with epithelial ovarian cancer: a qualitative study

Hannah E. Shipman, M. Tischkowitz, S. Flynn, C. MacDonald-Smith, N. Hulbert-Williams, GTEOC Study team;
Cambridge, United Kingdom


9.6% of mouse gene knockouts show abnormal neuroanatomy: a resource to identify genes and gene networks involved in ID in human

B. Yalcin, Anna Mikhaleva, V.E. Vancollie, M. Kannan, H. Whitley, A. Edwards, C. Wagner, J. Estabel, C.J. Lelliott, J.K. White, Sanger Mouse Genetics Project, D.J. Adams, D.A. Keays, J. Flint, Y. Herault, A. Reymond;
Lausanne, Switzerland


Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin*, E. Huynh Cong, G. Mollet, A. Guichet, O. Gribouval, C. Arrondel, O. Boyer, L. Daniel, M. Gubler, Z. Ekinci, M. Tsimaratos, B. Chabrol, N. Boddaert, A. Verloes, A. Chevrollier, N. Gueguen, V. Desquiret-Dumas, M. Ferré, V. Procaccio, L. Richard, B. Funalot, A. Moncla, D. Bonneau, C. Antignac;
Angers, France


Genome wide DNA promoter methylation: Differences in human subcutaneous vs. omental visceral adipose tissue

Maria Keller*, L. Hopp, X. Liu, K. Rohde, M. Klös, A. Dietrich, M. Schön, D. Gärtner, T. Lohmann, M. Dreßler, M. Stumvoll, P. Kovacs, H. Binder, M. Blüher, Y. Böttcher;
Leipzig, Germany


MCT1 deficiency impairs ketone utilization and causes profound ketoacidosis upon catabolic stress

P. van Hasselt, S. Ferdinandusse, G. Monroe, J. Ruiter, M. Turkenburg, M. Geerlings, K. Duran, M. Harakalova, B. van der Zwaag, A. Monavari, I. Okur, M. Sharrard, M. Cleary, N. O'Connell, V. Walker, E. Rubio Gozalbo, M. de Vries, G. Visser, R. Houwen, J. van der Smagt, N. Verhoeven-Duif, R. Wanders, Gijs van Haaften;
Utrecht, Netherlands



Single-cell allele specific expression (ASE) in T21: a novel approach to understand Down syndrome.

Georgios Stamoulis*, P. Makrythanasis, F. Santoni, A. Letourneau, M. Guipponi, M. Garieri, N. Panousis, E. Falconnet, P. Ribaux, C. Borel, S.E. Antonarakis;
Geneva, Switzerland


Sharing information with children and young people about adult-onset inherited conditions: Using evidence to improve services for parents and their children

Karen Forrest Keenan, L. McKee, Z. Miedzybrodzka;
Aberdeen, United Kingdom


Finding new connections in the transcriptional regulation of Lysine-specific demethylase 5C (KDM5C) a disease gene involved in syndromic and non-syndromic XLID

Agnese Padula*, L. Poeta, C. Shoubridge, A. Ranieri, K. Helin, J. Gecz, C. Schwartz, M.V. Ursini, H. vanBokhoven, M.G. Miano;
Naples, Italy


Mutations in PLK4, encoding a master regulator of centriole biogenesis, and its substrate, TUBGCP6, cause microcephaly, growth failure and retinopathy

Louise S. Bicknell, C. Martin, A. Klingseisen, I. Ahmad, M.S. Hussain, A. Leitch, G. Nurnberg, M.R. Toliat, J. Murray, D. Hunt, F. Khan, Z. Ali, S. Tinschert, J. Ding, C. Keith, M.E. Harley, P. Heyn, R. Mueller, I. Hoffman, V. Cormier-Daire, H. Dollfus, L. Dupuis, A. Bashamboo, K. McElreavey, A. Kariminejad, R. Mendoza-Londono, A.T. Moore, A. Saggar, C. Schlechter, R. Weleber, H. Thiele, J. Altmuller, W. Hohne, M.E. Hurles, A.A. Noegel, S.M. Baig, P. Nurnberg, A.P. Jackson;
Edinburgh, United Kingdom


Mapping genetic and epigenetic factors influencing human hippocampal gene expression

Andrea Hofmann*, H. Schulz, A. Ruppert, S. Herms, K. Pernhorst, C. Wolf, N. Kerbalai, O. Stegle, D. Czamara, S. Sivalingam, A. Hillmer, B. Pütz, A. Woitecki, S. Schoch, A.J. Forstner, B. Müller-Myhsok, M.M. Nöthen, T. Sander, A. Becker, P. Hoffmann, S. Cichon;
Bonn, Germany


Rare non-synonymous variations in the human ferroportin iron transporter gene (haemochromatosis type 4): the quest for causal mutations

I. Callebaut, S. Pissard, C. Kannengiesser, V. Gérolami, C. Ged, F. Cartault, J. Rochette, C. Ka, C. Férec, Gérald Le Gac;
Brest, France



High incidence of mosaic chromosomal aneuploidies in human cell lines: a quantification of the frequency of the phenomenon

Eftychia S. Dimitriadou*, M. Zamani Esteki, N. Van der Aa, T. Voet, J.R. Vermeesch;
Leuven, Belgium


Attitudes towards returning data to participants in sequencing research

Anne Middleton, C. Wright, H. Firth, M. Hurles, M. Parker, on behalf of the DDD study;
Cambridge, United Kingdom


HCFC1 is a dosage sensitive transcriptional coregulator of neurodevelopment that influences neural progenitor and neuronal cell function

Lachlan A. Jolly, L.S. Nguyen, D. Domingo, Y. Sun, S. Barry, M. Hancarova, P. Plevova, M. Vlckova, M. Havlovicova, V.M. Kalscheuer, C. Graziano, T. Pippucci, Z. Sedlacek, E. Bonora, J. Gecz;
Adelaide, Australia


Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin ring complex ?TuRC in autosomal recessive microcephaly with chorioretinopathy.

Sophie Scheidecker, C. Etard, L. Haren, C. Stoetzel, S. Hull, G. Arno, V. Plagnol, S. Drunat, S. Passemard, A. Toutain, C. Obringer, M. Koob, V. Geoffroy, V. Marion, U. Strähle, P. Ostergaard, A. Verloes, A. Merdes, A.T. Moore, H. Dollfus;
Strasbourg, France


Analysis of monoallelic expression in human individual cells revealed novel imprinting genes.

Christelle Borel, F. Santoni, M. Garieri, E. Falconnet, P. Ribaux, S.E. Antonarakis;
Geneva, Switzerland


Companion diagnostics by comprehensive targeted NGS with evidence for a threshold model in a cohort of 605 patients with atypical haemolytic uremic syndrome and hereditary glomerulopathies

M. Grohmann, N. Bachmann, M. Hiersche, T. Eisenberger, H.J. Bolz, T. Ring, B. Hohenstein, C. Mache, M.J. Kemper, C.S. Haas, N. Heyne, R.P. Wüthrich, F. Thaiss, B. Tönshoff, L. Pape, M. Wiesener, J. Menne, G. Walz, Carsten Bergmann;
Ingelheim, Germany



Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

Mirjam S. de Pagter*, M.J. van Roosmalen, A.F. Baas, I. Renkens, K.J. Duran, E. van Binsbergen, M. Tavakoli-Yaraki, R. Hochstenbach, L.T. van der Veken, E. Cuppen, W.P. Kloosterman;
Utrecht, Netherlands


Population-based Preconception Carrier Screening: how do potential users view a preconception test for 70 severe autosomal recessive diseases?

Mirjam Plantinga, E. Birnie, S. Kaplan, M.A. Verkerk, A.M. Lucassen, A.V. Ranchor, I.M. van Langen;
Groningen, Netherlands


Clinical and experimental evidence establish a link between KIF7 and C5orf42-related ciliopathies

Reza Asadollahi*, J.E. Strauss, M. Zenker, O. Beuing, S. Edvardson, O. Elpeleg, P. Joset, T.M. Strom, D. Niedrist, B. Oneda, S. Azzarello-Burri, M. Papik, A. Baumer, K. Steindl, A. Schinzel, E.T. Stoeckli, A. Rauch;
Zurich-Schlieren, Switzerland


From whole exome sequencing to functional studies in syndromic microcephaly: using zebrafish for variant testing

F. Cristofoli*, E. E. Davis, K. Devriendt, H. Peeters, H. Van Esch, J. R. Vermeesch;
Leuven, Belgium


Novel method reveals a large number of expression quantitative trait loci (eQTLs) influencing transcript levels in a Parent-of-origin fashion

Aaron F. McDaid, T. Esko, L. Franke, Z. Kutalik;
Lausanne, Switzerland


Common and rare variants associated with kidney stones and biochemical traits

Asmundur Oddsson*, P. Sulem, H. Helgason, V. Edvardsson, G. Thorleifsson, G. Sveinbjornsson, E. Haraldsdottir, G.I. Eyjolfsson, O. Sigurdardottir, I. Olafsson, G. Masson, H. Holm, D.F. Gudbjartsson, U. Thorsteinsdottir, O.S. Indridason, R. Palsson, K. Stefansson;
Reykjavik, Iceland

City & Country refer to presenting authors
* indicates Young Investigator Award Candidates