Page 125 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
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Friday, October 25
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (45-53)
SESSION 53 – Genomic Approaches for Study of Rare
Neurogenetic Disorders
Grand Ballroom CDE, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Brunhilde Wirth, Univ. Hosp. Cologne;
Margit Burmeister, Univ. of Michigan
322
/8:00
A novel mitochondrial
SLC25A
gene
causes CMT and optic atrophy.
A. J. Abrams, M.
A. Gonzalez, A. P. Rebelo, I. J. Campeanu, F. G.
Speziani, A. Nemeth, J. Dallman, S. Züchner.
323
/8:15
Molecular defects in the motor adaptor
BICD2 cause proximal spinal muscular atrophy
with autosomal-dominant inheritance.
K. Peeters,
I. Litvinenko, B. Asselbergh, L. Almeida-Souza, T.
Chamova, T. Geuens, E. Ydens, M. Zimon´, J. Irobi, E.
De Vriendt, V. De Winter, T. Ooms, V. Timmerman, I.
Tournev, A. Jordanova.
324
/8:30
AMPD2
regulates de novo GTP synthesis
and is mutated in a new form of pontocerebellar
hypoplasia.
V. Cantagrel, N. Akizu, J. Schroth, J. Van
Vleet, N. Cai, K. Vaux, A. Crawford, J. S. Silhavy, F. M.
Sonmez, F. Celep, A. Oraby, M. Zaki, R. Al-Baradie,
E. Faqeih, E. Nickerson, S. Gabriel, T. Morisaki, E. W.
Holmes, J. G. Gleeson.
325
/8:45
Truncating mutations of
MAGEL2
cause
autism and Prader-Willi syndrome-like phenotypes.
C. P. Schaaf, M. L. Gonzalez-Garay, F. Xia, L. Potocki,
K. W. Gripp, B. Zhang, B. A. Peters, M. A. McElwain,
R. Drmanac, A. L. Beaudet, C. T. Caskey, Y. Yang.
326
/9:00
Defective ubiquitination underlies
oligogenic cerebellar degeneration and
reproductive endocrine axis defects.
M. Kousi, D.
Margolin, Y. M. Chan, V. Muto, S. Servidei, E. T. Lim,
J. D. Schmahmann, M. Hadjivassiliou, J. E. Hall, I.
Adam, A. Dwyer, L. Plummer, S. V. Aldrin, J. O’Rourke,
A. Kirby, K. Lage, A. Milunsky, J. M. Milunsky, J. Chan,
E. T. Hedley-Whyte, M. J. Daly, M. Tartaglia, S. B.
Seminara, N. Katsanis.
327
/9:15
Periventricular heterotopia in 6q terminal
deletion syndrome: Role of the
C6orf70
gene.
V.
Conti, A. Carabalona, E. Pallesi-Pocachard, E. Parrini,
R. Leventer, E. Buhler, G. McGillivray, F. Michel, P.
Striano, D. Mei, F. Watrin, S. Lise, A. Pagnamenta,
J. Taylor, U. Kini, J. Clayton-Smith, F. Novara, O.
Zuffardi, W. Dobyns, I. Scheffer, S. Robertson, S.
Berkovic, A. Represa, D. Keays, C. Cardoso, R.
Guerrini.
328
/9:30
A gene implicated in the neurobehavioural
abnormalities of Williams-Beuren syndrome,
GTF2IRD1
,
encodes a novel epigenetic regulator.
P. Carmona-Mora, J. Widagdo, F. Tomasetig, K.
M. Taylor, Y. Cha, R.T-W Pang, N. A. Twine, M. R.
Wilkins, P. W. Gunning, E. C. Hardeman, S. J. Palmer.
329
/9:45
Targeted high-throughput sequencing of
220
genes identifies a high proportion of causative
mutations in over 80 patients with undiagnosed
intellectual disability.
C. Redin, S. Le Gras, J. Lauer,
A. Creppy, Y. Herenger, V. Geoffroy, Y. Alembik, M.
Doco-Fenzy, B. Doray, P. Edery, S. El Chehadeh, L.
Faivre, E. Flori, B. Isidor, G. Lesca, A. Masurel, B. Jost,
J. Muller, B. Gérard, J. L. Mandel, A. Piton.
330
/10:00
Genetic analysis and new gene discovery
in nemaline myopathy.
V. A. Gupta, G. Ravenscroft,
R. Shaheen, E. J. Todd, L. C. Swanson, M. Shiina, K.
Ogata, C. Hsu, N. F. Clarke, B. T. Darras, M. Farrar,
A. Hashem, N. Manton, F. Muntoni, K. N. North, S.
Sandaradura, I. Nishino, Y. K. Hayashi, C. A. Sewry, E.
Thompson, T. W. Yu, C. A. Brownstein, R. Allcock, M.
R. Davis, C. Wallgren-Petterson, N. Matsumoto, F. S.
Alkuraya, N. G. Laing, A. H. Beggs.