Page 88 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
77
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SESSION 16 – Neuromuscular Disease and Deafness
Room 124, Lower Level North, Moscone Center
Moderators
:
Anthony Antonellis, Univ. of Michigan;
Thomas Glover, Univ. of Michigan
52
/10:30
The TRK-fused gene is mutated in
hereditary motor and sensory neuropathy with
proximal dominant involvement (HMSN-P).
H.
Ishiura, W. Sako, M. Yoshida, T. Kawarai, O. Tanabe, J.
Goto, Y. Takahashi, H. Date, J. Mitsui, B. Ahsan, Y.
Ichikawa, A. Iwata, H. Yoshino, Y. Izumi, K. Fujita, K.
Maeda, S. Goto, H. Koizumi, R. Morigaki, M. Ikemura,
N. Yamauchi, S. Murayama, G. Nicholson, H. Ito, G.
Sobue, M. Nakagawa, R. Kaji, S. Tsuji.
53
/10:45
Mutation in the autophagy-related
TECPR2
gene causes hereditary spastic
paraparesis.
D. Oz-Levi, B. Ben-Zeev, E. Ruzzo, Y.
Hitomi, A. Gelman, K. Pelak, Y. Anikster, H. Reznik-
Wolf, I. Bar-Joseph, T. Olender, A. Alkelai, M. Weiss, E.
Ben-Asher, D. Ge, K. Shianna, Z. Elazar, D. Goldstein,
E. Pras, D. Lancet.
54
/11:00
Spinal muscular atrophy associated with
progressive myoclonic epilepsy is caused by
mutations in
ASAH1
.
J. Melki, J. Zhou, M. Tawk, F. D.
Tiziano, J. Veillet, M. Bayés, F. Nolent, V. Garcia, S.
Servidei, E. Bertini, F. Castro-Giner, Y. Renda, S.
Carpentier, N. Andrieu-Abadie, I. Gut, T. Levade, H.
Topaloglu.
55
/11:15
Genetic variants in chromatin modifying
genes cause
D4Z4
hypomethylation,
DUX4
expression, and contraction-independent
facioscapulohumeral muscular dystrophy (FSHD2).
D. G. Miller, R. J. L. F. Lemmers, L. M. Petek, J. Balog,
P. J. van der Vliet, G. J. Block, J. W. Lim, G. N.
Filippova, A. M. Amell, G. W. E. Santen, B. Bakker, M.
J. Bamshad, S. J. Tapscott, R. Tawil, S. M. van der
Maarel.
56
/11:30
Unexpected extension of the phenotype
spectrum associated with
SMAD3
mutations in
aneurysms-osteoarthritis syndrome.
M. Aubart, D.
Gobert, N. Hanna, C. Muti, J. Roume, V. Cusin, B.
Grandchamp, L. Gouya, D. Detains, G. Jondeau, C.
Boileau.
57
/11:45
Whole-exome sequencing for autosomal
recessive non-syndromic deafness: 93% of known
genes covered and
OTOGL
and
SLITRK6
are novel
genes.
M . Tekin, O. Diaz-Horta, D. Duman, J. Foster II,
A. Sirmaci, M. Gonzalez, N. Mahdieh, M. Bonyadi, F.
B. Cengiz, R. Ulloa, S. Zuchner, S. Blanton.
58
/12:00
Whole exome sequencing and more to
unravel the genetics and genotype-phenotype
correlations for deafness.
H. Kremer, M. Schraders,
C. Zazo Seco, J. Oostrik, I. Feenstra, A. M. M. Oonk,
E. van Beelen, M. van Bers, K. Neveling, J. A. Veltman,
R. J. C. Admiraal, H. P. M. Kunst, R. J. E. Pennings, E.
H. Hoefsloot.
59
/12:15
A mutation in Ca
2
+
binding protein 2,
expressed in cochlear inner hair cells, causes
autosomal recessive hearing impairment.
I . Schrauwen, S. Helfmann, A. Inagaki, F. Wolk,
M. A. Tabatabaiefar, M. M. Picher, M. Sommen,
C. Zazo Seco, H. Kremer, A. Dheedene, C. Claes,
E. Fransen, M. A. Chaleshtori, P. Coucke, A. Lee,
T. Moser, G. Van Camp.
60
/12:30
Comprehensive diagnosis for hearing loss
using personal genomics: The first 100 cases.
E . Shearer, E. A. Black-Ziegelbein, M. S. Hildebrand,
A. P. DeLuca, R. W. Eppsteiner, S. E. Scherer,
T. E. Scheetz, T. L. Casavant, R. J. H. Smith.
INVITED AND PLATFORM SESSIONS
Wednesday, November 7
10:30
AM
–12:45
PM
Concurrent Platform (abstract-driven)
Session A (11-19)