Page 253 - ASHG 2012 Annual Meeting Program Guide

242
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3169
W Skeletal clinical characteristics of osteogenesis
imperfecta caused by haploinsufficiency mutations in
COL1A1
.
I. M. Benamor, P. Roughley, F. H. Glorieux, F. Rauch.
3170
F A new dominant frontonasal dysplasia with
major posterior cranial defect.
S. Odent, S. Mercier,
M. de Tayrac, J. Mosser, P. Loget, C. Rozel, S. Jaillard,
J. Milon, L. Riffaud, G. Le Bouar, P. Poulain, E. Martin, C.
Dubourg, V. David.
3171
W Cerebrovascular changes in a patient with
Noonan syndrome and a
RAF1
mutation.
Y. Zarate, A.
Lichty, G. Matheus, K. Champion, K. Clarkson, K. Holden.
3172
F
EFTUD2
haploinsufficiency leads to syndromic
esophageal atresia.
J. Amiel, C. Gordon, M. Oufadem, C.
Decaestecker, A.-S. Jourdain, J. Andrieux, V. Malan, J.-L.
Alessandri, C. Baumann, O. Boute-Benejean, B. Delobel,
D. Lacombe, S. Mehta, I. Simonic, F. Escande, N. Porchet,
S. Manouvrier-Hanu, F. Petit, A. Munnich, M. Vekemans, S.
Lyonnet, L. de Pontual, M. Holder-Espinasse.
3173
W Al-Awadi/Raas-Rothshild/Schinzel-Fuhrman
spectrum phenotypes in patients with no mutations
in
WNT7A
.
O. Caluseriu, E. Sherridan, K. M. Girisha, J.
Parboosingh, A. M. Innes, F. P. Bernier.
3174
F A long polyphenilalanine repeats expansion
in the
RUNX2
gene in a patient with cleidocranial
dysplasia.
M. Michelson-Kerman, E. Leshinsky-Silver, D.
Lev, A. Singer, C. Vinkler.
3175
W Novel mutation in the
ADAMTSL4
gene in a child
with bilateral ectopia lentis and aortic root dilatation:
Expandingthe phenotype?
R. L. Sanchez, Z. Ammous,
P. Jayakar.
3176
F Mutations in
DMD
gene identified during clinical
evaluation of patients with autism and/or global
developmental delay.
J. Moeschler, S. Upton, J. Ozmore.
3177
W Copy number variants in monozygotic twins
with neurofibromatosis 1.
E. Schorry, E. Sites, D.
Viskochil, D. Stevenson, N. Ullrich, T. Smolarek, L. Martin.
3178
F A novel synonymous mutation causing aberrant
splicing on the
SLC26A4
gene in a Korean patient with
a hearing loss.
Y. Kim, J. Kim, J. Y. Choi, K.-A. Lee.
3179
W Overlapping anophthalmia syndromes:
SOX2
,
the new kid on the block.
A. Schneider, T. Bardakjian.
3180
F Distinct clinical and neurological features in a
Korean boy with Schinzel - Giedion syndrome caused
by a de novo
SETBP1
mutation.
J. M. Ko, B. C. Lim, K. J.
Kim, Y. S. Hwang, C. H. Chae.
3181
W Crisponi syndrome in a Turkish newborn: A
possible founder mutation in the
CRLF1
gene?
V.
Benoit, P. Hilbert, M. Deprez, A. Charon, I. Maystadt, S.
Moortgat.
3182
F Interference with IS-PCR assays for Inv22
testing of hemophilia A.
T. Lewis, G. Pont-Kingdon, Y.
Louie, J. Swenson.
3157
W Missense and synonymous
TCF4
mutations
are responsible for splicing defects in Pitt-Hopkins
syndrome.
M. Nasser, L. Drévillon, A. Briand-Suleau,
J. Ghoumid, T. Gaillon, V. Bodereau, L. Pasquier, M.
Goossens, J. Amiel, D. Héron, I. Giurgea.
3158
F Clinical genetics in silico: Use of an electronic
medical record in an integrated healthcare system
to identify individuals with undiagnosed Noonan
syndrome.
M. E. Nunes, R. E. Barber, S. K. Kwok, R. R.
Wilson, D. J. Levy.
3159
W Detailed clinical and orofacial phenotype of
three families with compound heterozygous
WNT10A
mutations using three-dimensional imaging methods.
C. W. Ockeloen, C. Vink, S. ten Kate, C. van Heumen, T.
Kleefstra, C. Carels.
3160
F Tegumentary manifestations in RASopathies
are common and deserve special attention.
C. R. D. C.
Quaio, A. S. Brasil, A. C. Pereira, C. A. Kim, D. R. Bertola.
3161
W Molecular analysis and expression studies in
a novel candidate gene for syndromic coloboma.
N.
K. Ragge, A. Wyatt, D. Robinson, D. Bunyan, D. Wong, I.
Ragoussis.
3162
F Variable expressivity of
FREM1
-
related
anomalies in a family with novel mutation.
A. Singer, A.
Slavotinek, H. Leiba, S. Josefsberg, C. Vinkler.
3163
W Identification of a
KRIT1
p.Gln201Glu mutation
in a Persian family with multiple cerebral, spinal and
skin cavernous malformations.
S. M. Sperber, D. Fathi,
M. Shahbazi, M. M. Motahari, B. Friedman, A. Haghighi.
3164
F Novel 3q26 EVI1/MECOM deletion syndrome in a
newborn with multiple severe congenital abnormalities
and bone marrow failure.
L. T. van der Veken, M. B.
Bierings, M. C. Maiburg, F. Groenendaal, A. C. Bloem, N.
V. Knoers, A. Buijs.
3165
W KIAA 2022-related X-linked intellectual deficiency:
Confirmation of a discrete entity in five patients.
L. Van
Maldergem, V. M. Kalscheuer, M. Doco-Fenzy, A. Medeira, A.
de Brouwer, E. Landais, L. Villard, J. Dupont.
3166
F Extending the phenotype spectrum of
IQSEC2
mutations: Report of a patient with
IQSEC2
intragenic
duplication and atypical variant of Rett syndrome.
M.
Willems, F. Tran Mau-Them, J. Puechberty, G. Lefort, A.
Schneider, I. Touitou, M. Girard, M. Tournaire, N. Ruiz-
Pallares, F. Rivier, S. Drunat, P. Sarda, D. Genevieve.
3167
W Mutations in TGF-beta binding domains in
the
FBN1
gene result in diverse connective tissue
dysplasia syndromes with short stature.
K. H. C. Wu, A.
Baxter, J. R. Pinner, D. Mowat, T. Dudding, B. Bennetts, K.
Holman, E. Ormshaw, T. Gayagay, L. C. Adès, C. L. Goff, V.
Cormier-Daire, D. O. Sillence.
3168
F Clinical and genetic analysis in Chinese patients
with megalencephalic leukoencephalotathy with
subcortical cysts.
M. Guo, Y. Jiang, H. Xie, Y. Wu, J.
Shang, Q. Gu, X. Wu, J. Wang.