Page 255 - ASHG 2012 Annual Meeting Program Guide

244
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3222
F Three pycnodysostosis cases with a novel
mutation in cathepsin K gene.
T. Ozdemir, T. Atik, E.
Karaca, H. Onay, F. Ozkinay, O. Cogulu.
3223
W Application of next-generation sequencing for
mutation detection in autosomal dominant polycystic
kidney disease.
H. C. Park, A. Kang, J. Y. Jang, Y. Hwang,
H. Kim, M. Han, D. K. Kim, K. Oh, W. Park, H. I. Cheong,
C. Ahn.
3224
F Whole exome sequencing identifies a missense
mutation in
SEPT2
as a probable cause of a new
autosomal dominant syndrome with distinctive face,
ear anomalies, and learning disability.
A. Rump,
K. Hackmann, A. Dahl, A. Fischer, M. Schweiger, M.
Schilhabel, A. ElSharawy, A. Franke, E. Schrock, N. Di
Donato.
3225
W Oculocutaneous albinism (OCA1A/B): Founder
mutations in the tyrosinase gene in Colombia.
O.
Urtatiz, D. Sanabria, M. C. Lattig.
3226
F Ophthalmologic findings in Mexican patients with
myotonic dystrophy type I.
P. Barojas, J. J. Magaña,
G. Ortega, N. Leyva, B. Cisneros, O. Hernández-Hernández,
E. Barojas.
3227
W Molecular diagnosis of myotonic dystrophy
type I by PCR Southern method.
G.-H. Kim, J.-J. Lee,
S.-H. Choi, J.-Y. Lee, J.-M. Kim, Y.-M. Kim, B. H. Lee,
H.-W. Yoo.
3228
F Mutations in
FOXP2
cause childhood apraxia
of speech: Report of a novel intragenic deletion in
an Australian patient.
M. S. Hildebrand, S. Turner, J.
Damiano, R. J. H. Smith, M. Bahlo, I. E. Scheffer, A. T.
Morgan.
3229
W Exome sequencing identifies a novel
MRE11
mutation in a patient with generalized myoclonic
tremor.
R. Miyamoto, H. Morino, H. Maruyama, Y. Izumi,
R. Kaji, H. Kawakami.
3230
F Pathophysiological features of dermatan
4-
O-sulfotransferase 1-deficient Ehlers-Danlos
syndrome.
T. Kosho, S. Mizumoto, M. Kobayashi, Y.
Fujita, J. Nakayama, N. Miyake, Y. Nomura, A. Hatamochi,
Y. Fukushima, K. Sugahara, N. Matsumoto.
3231
W Rupture of chordae tendineae as an initial
presentation of an haploinsufficiency mutation in
COL3A1
.
Z. Xu, B. F. Griswold, L. J. Sloper, A. S. Shah, N.
B. McDonnell.
3232
F Prenatal diagnosis and identification of
heterozygous frameshift mutation in
PRRX1
in an infant
with agnathia-otocephaly.
M. Donnelly, E. Todd, M.
Wheeler, V. D. Winn, D. Kamnasaran.
3233
W Identification of the disease causing gene in
a familial autosomal recessive form of congenital
nystagmus by exome sequencing.
B. Isidor, J.
Albuisson, S. Bezieau.
3211
W Genotype-phenotype correlation in Bardet-
Biedl syndrome.
E. Forsythe, K. Sparks, M. S. B. Huda,
J. Hazlehurst, S. Mujahid, P. Carroll, B. McGowan, J. W.
Tomlinson, S. Mohammed, P. L. Beales.
3212
F Photoreceptor loss in LCR-deletion associated
blue cone monochromacy: Implications for gene
therapy.
R. B. Hufnagel, A. Dubra, R. A. Sisk, J. C.
Gardner, S. Riazuddin, A. J. Hardcastle, A. T. Moore, J.
Neitz, M. Michaelides, M. Neitz, J. Carroll, Z. M. Ahmed.
3213
W VCP-associated inclusion body myopathy
with Paget disease of bone and/or frontotemporal
dementia: Expanding natural history and genotype-
phenotype characterization.
M. Khare, S. G. Mehta, R.
Ramani, G. J. Watts, B. Martin, M. Simon, K. E. Osann, S.
Donkervoort, E. Dec, A. Nalbandian, A. Wang, T. Mozaffar,
C. D. Smith, V. E. Kimonis.
3214
F A novel short stature syndrome caused by
defects in glycosaminoglycan synthesis due to altered
xylosyltransferase 1 activity.
J. Schreml, B. Durmaz,
O. Çog˘ ulu, K. Keupp, F. Beleggia, E. Pohl, E. Milz, G.
Nürnberg, P. Nürnberg, J. Kuhn, M. Coker, S. Kalkan Ucar,
F. Özkinay, B. Wollnik.
3215
W Case studies for the clinical diagnosis of rare,
congenital, pediatric disorders by whole genome
sequencing.
S. Szelinger, V. Narayanan, H. Boman, A. F.
Hahn, J. J. Corneveaux, A. L. Siniard, A. A. Kurdoglu, M. J.
Huentelman, D. W. Craig.
3216
F Variable phenotypic spectrum in a cohort
of patients with
ARID1B
mutations.
S. Boulanger, L.
Mariage, D. Lederer, S. Moortgat, A. Destree, P. Hilbert, I.
Maystadt.
3217
W Whole exome sequencing in patients with
intellectual disabilities.
I. Madrigal, U. Liljedahl, M. I.
Alvarez, O. Karlberg, L. Rodriguez-Revenga, A. Mur, A.-C.
Syvänen, M. Mila.
3218
F Identification of the p.A140V mutation in
MECP2
gene in a family with non specific X-linked mental
retardation.
I. Maystadt, S. Boulanger, P. Vrielynck, S.
Moortgat, A. Destree, D. Lederer.
3219
W Whole exome sequencing identifies titin (
TTN
)
mutations as a cause of centronuclear myopathy.
O. Ceyhan, P. B. Agrawal, K. Schmitz, E. DeChene, K.
Markianos, A. H. Beggs.
3220
F Unexpected
EGFR3
variants confounding
achondroplasia mutation detection.
A. Millson, A. F.
Rope, E. Lyon.
3221
W Analysis of
C9orf72
repeat expansion in
Japanese patients with ALS.
K. Ogaki, Y. Li, N. Atsuta,
H. Tomiyama, M. Funayama, H. Watanabe, R. Nakamura,
H. Yoshino, S. Yato, A. Tamura, Y. Naito, A. Taniguchi, K.
Fujita, Y. Izumi, R. Kaji, N. Hattori, G. Sobue, Japanese
Consortium for Amyotrophic Lateral Sclerosis Research
(
JaCALS).