Page 237 - ASHG 2012 Annual Meeting Program Guide

226
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2785
W Homozygosity mapping and exome sequencing
in a Saudi-Arabian family with unspecified juvenile
neurodegeneration.
E. Frackelton, P. M. A. Sleiman, L.
Tien, S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid,
C. Kim, Y. Housawi, H. Hakonarson.
2786
T Neuropathology in POL III related disorders:
Myelin loss in 4H syndrome.
A. Vanderver, J. Schmidt,
G. Carosso, D. Tonduti, G. Bernard, J. Lai, C. Rossi, M.
Quezado, K. Wong, R. Schiffman.
2787
F Identification of homozygous
WFS1
mutations
(
p.Asp211Asn, p.Gln486*) causing severe Wolfram
syndrome and first report of male fertility.
A. Haghighi,
A. Haghighi, A. Setoodeh, N. Saleh-Gohari, D. Astuti, T.
G. Barrett.
2788
W Whole exome sequencing in children
with unclassified, sporadic, early-onset epileptic
encephalopathies.
K. R. Veeramah, L. Johnstone, D.
Wolf, R. Sprissler, T. M. Karafet, D. Talwar, R. P. Erickson,
M. F. Hammer.
2789
T Determining the genetic architecture of Joubert
syndrome.
D. O’Day, B. J. O’Roak, I. G. Phelps, J. C.
Dempsey, I. Glass, H. C. Mefford, J. Shendure, D. Doherty.
2790
F Genetics of Joubert syndrome in the French
Candian population.
M. Srour, J. Schwartzentruber, F. F.
Hamdan, L. H. Ospina, L. Patry, D. Labuda, C. Massicotte,
S. Dobrzeniecka, J.-M. Capo-Chichi, S. Papillon-
Cavanagh, M. E. Samuels, K. M. Boycott, M. I. Shevell,
R. Laframboise, V. Désilets, D. Amron, E. Andermann,
G. Sebire, B. Maranda, G. A. Rouleau, J. Majewski, J. L.
Michaud, FORGE Canada Consortium.
2791
W Mechanisms underlying non-recurrent
microdeletions causing neurofibromatosis type-1.
J.
Vogt, K. Bengesser, K. Claes, K. Wimmer, L. Messiaen, L.
Kluwe, V.-F. Mautner, H. Kehrer-Sawatzki.
2792
T The
DYRK1A
gene is a rare cause of Angelman-
like syndrome with severe microcephaly and epilepsy.
J.-B. Courcet, E. Lopez, J. Thevenon, N. Gigot, L. Jego,
C. Ragon, A. Masurel-Paulet, P. Callier, N. Marle, A.-L.
Mosca-Boidron, F. Huet, C. Philippe, L. Lambert, P.
Malzac, L. Faivre, A. Moncla, C. Thauvin-Robinet.
2793
F Exome sequencing reveals cause of
hypomyelinating leukodystrophy.
D. L. Dinwiddie, N. A.
Miller, C. J. Saunders, S. E. Soden, G. M. Hobson, S. F.
Kingsmore.
2794
W Intractable epilepsy and tau protein pathology
in a child with a defect in the synaptic vesicle recycling
pathway.
D. A. Dyment, A. Smith, P. Humphreys, J.
Woulfe, FORGE Canada Consortium, D. E. Bulman, J.
Schwartzentruber, J. Majewski, J. Michaud, K. M. Boycott.
2795
T Novel
CDKL5
splicing variant in a boy with early-
onset seizures.
R. Polli, G. Ho, E. Leonardi, E. Bettella, E.
Fontana, B. Dalla Bernardina, J. Christodoulou, A. Murgia.
2773
W Thrombospondin genes are required for
development of normal cochlear function and
maintenance.
M. Mustapha, D. Mendus, V. Sundaresan.
2774
T Lack of the
VPS35
Asp620Asn mutation in
southern Italian patients with familial Parkinson’s
disease.
G. Annesi, M. Gagliardi, P. Tarantino, F.
Cavalcanti, T. Mirante, M. Caracciolo, A. Bagal‡, A.
Gambardella, A. Quattrone.
2775
F Ubiquilin 2 mutations in Italian patients with
amyotrophic lateral sclerosis and frontotemporal
dementia.
C. Gellera, C. Tiloca, R. Del Bo, L. Corrado, V.
Pensato, J. Agostini, C. Cereda, A. Ratti, B. Castellotti,
S. Corti, A. Bagarotti, A. Cagnin, P. Milani, C. Gabelli, G.
Riboldi, L. Mazzini, G. Sorarù, S. D’Alfonso, F. Taroni, G. P.
Comi, N. Ticozzi, V. Silani.
2776
W Genetics of primary microcephaly in Indian
families.
A. Kumar, V. Bhat, G. Mohan, S. C. Girimaji.
2777
T
ZIC1
and
ZIC4
deletion at 3q24 is not constantly
associated to Dandy-Walker malformation.
S. Loddo, V.
Parisi, L. Bernardini, A. Ferraris, A. Capalbo, L. Travaglini,
G. Zanni, M. L. Di Sabato, S. Tumini, A. Novelli, V. Sabolic,
E. Bertini, B. Dallapiccola, E. M. Valente.
2778
F A frameshift mutation in the gene encoding
folliculin-interacting protein 2 associated with
hypomyelination and tremors in the Weimaraner.
P.
Patel, T. Pemberton, S. Choi, J. Mayer, F.-Y. Li, N. Safra, D.
Bannasch, K. Sullivan, B. Breuhaus, I. Duncan.
2779
W Familial cortical myoclonus with a mutation
in
NOL3
.
J. F. Russell, J. L. Steckley, G. Coppola, A. F.
G. Hahn, M. A. Howard, Z. Kornberg, A. Huang, S. M.
Mirsattari, B. Merriman, E. Klein, M. Choi, H.-Y. Lee, A.
Kirk, C. Nelson-Williams, G. Gibson, S. C. Baraban, R. P.
Lifton, D. H. Geschwind, Y.-H. Fu, L. J. Ptacek.
2780
T Mutations in
PRRT2
result in familial infantile
convulsions with marked variability in clinical
expression and SUDEP.
P. Tarantino, G. Palamara,
A. Labate, M. Gagliardi, L. Mumoli, E. Ferlazzo, F.
Cavalcanti, U. Aguglia, G. Incorpora, A. Gambardella, G.
Annesi.
2781
F Molecular analysis of
NIPA1
gene mutations
in patients with spastic paraplegia.
F. Taroni, S.
Caldarazzo, E. Sarto, M. Plumari, V. Martinelli, D.
Pareyson, S. Baratta, D. Di Bella.
2782
W Incomplete nonsense-mediated decay
facilitates detection of a multi-exonic deletion
mutation in
SCGE
.
J. Xiao, K. Marshall, M. LeDoux.
2783
T Isoform-selective MeCP2-e1 deficient mice
recapitulate the neurologic defecits of Rett syndrome.
D. H. Yasui, K. W. Dunaway, M. S. Golub, N. C. Schanen,
J. M. LaSalle.
2784
F
ARHGEF26/SGEF
controls arteriosclerosis,
retinal fovea, immunity and neurodevelopment.
P.
Bitoun, E. Pipiras, B. Benzacken, A. Delahaye.