Page 248 - ASHG 2013 Program Guide

POSTER SESSIONS
  235
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3007
F
SLC25A12
homozygous missense mutation
reduces neuronal AGC1 activity to cause global
developmental delay, intractable epilepsy, and reduced
N-acetylaspartate in consanguineous.
D. Li, M. J.
Falk, X. Gai, E. McCormick, E. Place, F. M. Lasorsa, F. G.
Otieno, C. Hou, C. E. Kim, N. Abdel-Magid, L. Vazquez,
F. D. Mentch, R. Chiavacci, G. Giannuzzi, E. D. Marsh, Y.
Guo, L. Tian, F. Palmieri, H. Hakonarson.
3008
W Defect of
TARG1/C6orf130
gene causing an
autosomal form of familial neurodegeneration with
seizure.
E. Ozkan, B. Chioza, M. Patton, A. G. Ladurner,
G. Timinszky, I. Ahel, R. Sharifi.
3009
T Application of high-throughput sequencing to
pediatric patients with unresolved diagnoses.
R. J.
Taft, C. Simons, A. Vanderver, R. J. Leventer, M. S. van
der Knaap, N. I. Wolf, R. Schiffmann, S. Damiani, P. Pearl,
M. Bloom, S. M. Grimmond, D. Miller, D. R. Thorburn, J.
Christodoulou, M. Gabbet, J. McGaughran.
3010
F Rai1 dosage in early development is essential to
PTLS-like phenotype development in Dt-Rai1 animals.
L. Cao, C. Abad, J. Molina, J. I. Young, K. Walz.
3011
W Role of
REEP1
(
SPG31) in mitochondrial
structure and energetic function.
C. Goizet, J. Lavie, N.
Bellance, S. Melser, G. Solé, D. Hannequin, S. Lyonnet,
S. Forlani, A. Brice, G. Stevanin, A. Durr, R. Rossignol, D.
Lacombe, G. Bénard.
3012
T Comprehensive genetic analysis of autosomal
dominant spinocerebellar ataxia using a next-
generation sequencing system.
Y. Higuchi, A.
Yoshimura, J. Yuan, Y. Sakiyama, R. Saigo, R. Hirano, A.
Hashiguchi, Y. Okamoto, R. Okubo, H. Takashima.
3013
F The phenotype associated with
ASPM
mutation
expands to severe Seckel syndrome.
D. J. Morris-
Rosendahl, G. Yigit, G. Carpenter, R. Colnaghi, K. Mueller,
G. Borck, M. Trimborn, F. Beleggia, M. Leipoldt, G.
Nuernberg, K. Seufert, B. Wollnik, M. O’Driscoll.
3014
W Mutation in the
SYNJ1
gene associated with
autosomal recessive, early-onset parkinsonism.
S.
Olgiati, M. Fang, M. Picillo, M. Quadri, G. J. Breedveld, J.
Graafland, B. Wu, F. Xu, R. Erro, M. Amboni, S. Pappata,
M. Quarantelli, H. F. Chien, E. R. Barbosa, B. A. Oostra, P.
Barone, J. Wang, V. Bonifati.
3015
T Copy number variants and deletion classes as
modifier elements of phenotype in Angelman delete
patients.
S. Russo, V. Giorgini, E. Mainini, G. Randazzo, P.
Bonanni, M. Viri, A. Vignoli, M. Elia, M. T. Bonati, L. Larizza.
3016
F A Charcot-Marie-Tooth type 2 family with two
neuropathy gene variants identified th ough next-
generation sequencing using a targeted panel.
F. H.
Sansbury, T. Antoniadi, C. Buxton, R. Whittington, N. J.
Gutowski, P. D. Turnpenny.
3017
W A Japanese girl with severe form of
vanishing white matter disease resembling Cree
leukoencephalopathy.
K. Takano, T. Wada, H. Osaka, Y.
Tsurusaki, H. Saitsu, N. Matsumoto.
2997
T Severe congenital
RYR1
associated myopathy:
AR and AD
RYR1
mutations that expand the genetic,
clinical and pathologic spectrum.
L. Medne, D. X.
Bharucha-Goebel, M. Santi, K. Zukosky, J. Dastgir, T.
Winder, P. B. Shieh, G. Tennekoon, R. S. Finkel, J. J.
Dowling, N. Monnier, C. G. Bönnemann.
2998
F Subtle mutations in the
SMN1
gene in Chinese
patients with SMA: p.Arg288Met mutation causing
SMN1
transcript exclusion of exon7.
Y. Qu, J. Du, E. Li,
J. Bai, Y. Jin, H. Wang, F. Song.
2999
W Exome sequencing identifies
PINCH2
mutations
associated with early-onset autosomal recessive
LGMD with severe cardiomyopathy and triangular
tongue.
J. Warman Chardon, A. Smith, J. Woulfe, K.
Rakhra, C. Dennie, J. Schwartzentruber, C. Beaulieu,
FORGE Canada Consortium, J. Majewski, D. E. Bulman,
K. M. Boycott, D. Dyment.
3000
T
C19ORF12
mutations in neurodegeneration
with brain iron accumulation.
G. Annesi, P. Tarantino,
M. Gagliardi, G. Lesca, E. Broussolle, A. Gambardella, A.
Quattrone.
3001
F Hypoxanthine guanine
phosphoribosyltransferase deficiencies:
HPRT1
mutations in new Japanese families and PRPP
concentration.
Y. Yamada, N. Nomura, A. Yamano,
K. Yamada, R. Kimura, D. Fukushi, H. Hasegawa, M.
Nakamura, K. Ichida, N. Wakamatsu.
3002
W
PLEKHG5
deficiency leads to an intermediate
form of autosomal recessive Charcot-Marie-Tooth
disease.
H. Azzedine, P. Zavadakova, V. Planté-
Bordeneuve, M. Vaz Pato, N. Pinto, L. Bartesaghi, J.
Zenker, O. Poirot, N. Bernard-Marissal, E. Arnaud, R.
Cartoni, A. Title, G. Venturini, J. J. Médard, E. Makowski,
L. Schöls, K. G. Claeys, C. Stendel, A. Roos, J. Weis, O.
Dubourg, J. L. Loureiro, G. Stevanin, G. Said, A. Amato, J.
Baraban, E. LeGuern, J. Senderek, C. Rivolta, R. Chrast.
3003
T Characterization of a homologue of the
Batten disease protein CLN3 in the model eukaryote
Dictyostelium
.
R. J. Huber, S. L. Cotman, M. A. Myre.
3004
F Whole exome sequencing identifies a new gene
for Charcot-Marie-Tooth type 2 in a Polish family.
M. L.
Kennerson, G. Pérez-Siles, A. Kochan´ ski, A. Kidambi, A. P.
Drew, J. Kosin´ ska, M. Gonzalez, D. Kabzin´ ska, R. Ploski,
M. Menezes, I. Hausmanowa-Petrusewicz, S. Zuchner, G.
A. Nicholson.
3005
W Distributions of degenerative myelopathy
associated
SOD1
alleles among privately owned dogs.
A.
Kolicheski, R. Zeng, G. S. Johnson, M. L. Katz, T. Mhlanga-
Mutangadura, L. Hansen, E. Ivansson, K. Lindblad-Toh, J.
Guo, D. P. O’Brien, G. C. Johnson, J. R. Coates.
3006
T Homozygous null mutations of
FIG4
in Yunis-
Varón syndrome.
G. M. Lenk, P. M. Campeau, J. T. Lu,
Y. Bae, L. Burrage, P. Turnpenny, J. R. Corona-Rivera, L.
Morandi, M. Mora, H. Reutter, A. T. Vulto-van Silfhout,
L. Olivier-Faivre, E. Haan, R. A. Gibbs, M. H. Meisler, B.
H. Lee.