Page 237 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2741
F Report of a Colombian case of Werner
mesomelic syndrome with eight fingers in both hands
and feet.
J. C. Prieto, G. Giraldo, T. Pineda.
2742
W A novel
WNT7A
mutation causes autosomal
recessive Al-Awadi/Raas-Rothschild/Schinzel
phocomelia syndrome.
Y. Sahin, P. O. Simsek-Kiper,
A. Cetinkaya, G. E. Utine, K. Boduroglu.
2743
T Three generation family with kyphomelic
dysplasia suggests autosomal dominant inheritance.
O. Vanakker, U. Fränkel, B. Callewaert.
2744
F Further evidence of brain anomalies related
to
ALX4
mutations: Possible genotype-phenotype
correlation.
T. Almeida, M. Valente, G. L. Yamamoto,
C. A. Kim, M. R. Passos-Bueno, D. R. Bertola.
2745
W Further occurrence of “TMCO1 defect
syndrome” in a non-Amish population: The first Sout
American patient presenting the same p.R87X mutation
recently found in a Turkish individual.
W. A. R. Baratela,
G. L. Yamamoto, M. R. Passos-Bueno, D. R. Bertola.
2746
T Sibs with hydrops fetalis, arthrogryposis
multiplex congenital, neuronal migration disorder,
adrenal and pulmonary hypoplasia and renal
abnormalities associated with a mutation in the
FAT4
gene, encoding a giant cadherin.
D. Chitayat, T. Uster,
P. Shannon, M. Srour, S. Robertson, J. Michaud.
2747
F Genetic heterogeneity in Mabry syndrome: A novel
phosphatidylinositol glycan (GPI) anchor deficienc
disorder.
D. Cole, T. Roscioli, M. Nezarati, E. Sweeney, P.
N. Krawitz, H. van Bokhoven, C. Marcelis, B. DeVries, D.
Andrade, W. M. Burnham, A. Munnich, M. Thompson.
2748
W Exome sequencing of the X-chromosome in
Aicardi syndrome.
C. Lund, H. S. Sorte, Y. Sheng, M. D.
Vigeland, O. Røsby, K. K. Selmer.
2749
T Mutations in extracellular matrix genes
NID1
and
LAMC1
cause autosomal dominant Dandy-Walker
malformation and occipital cephaloceles.
V. Mahajan,
B. Darbro, L. Gakhar, J. Skeie, E. Campbell, S. Wu, X.
Bing, K. Millen, W. Dobvns, J. Kessler, A. Jalali, J. Cremer,
A. Segre, J. Manak, K. Aldinger, S. Suzuki, N. Natsume,
M. Ono, H. Dai Hai, L. Thi Viet, S. Loddo, E. Valente, L.
Bernardini, N. Ghonge, P. Ferguson, A. Bassuk.
2750
F Mapping a new locus for autosomal dominant
nonsyndromic comitant strabismus.
M. Patel, X. Ye,
C. Shyr, Z. Zong, M. Thomas, P. Power, N. Roslin, S.
Narasimhan, D. Giaschi, W. Wasserman.
2751
W Exome sequencing identifies mutations in a
gene not previously related to skeletal dysplasias in
patients with spondylometaphyseal dysplasia.
G. L.
Yamamoto, W. A. R. Baratela, T. F. de Almeida, C. A. Kim,
M. R. S. Passos-Bueno, D. R. Bertola.
2752
T A novel missense mutation in
PRPS1
leads
to PRS-I deficiency in females displaying etinitis
pigmentosa and variable expression of a neurologic
phenotype.
B. Almoguera, J. Liang, P. Fernandez, M.
Corton, Y. Guo, B. Keating, J. Zhang, H. Hakonarson,
X. Xu, C. Ayuso.
2729
F Novel autosomal-recessive syndrome with short
stature, distinct facial appearance, myopia, retinitis
pigmentosa, bilateral hearing loss, and mild intellectual
disability.
E. Schrock, T. M. Neuhann, I. Neuhann, A. Bier,
B. Novotna, N. Di Donato.
2730
W The use of exome sequencing to disentangle
complex phenotypes.
H. J. Williams, C. Baccheli, J.
Hurst, F. Lescai, L. Ocaka, C. James, C. Pao, E. Rosser,
P. Beales.
2731
T Association study of genetic polymorphisms
in DNA repair genes
APE1/Ref-1
and DNA oxidative
damage with the risk of neural tube defects.
J. Wang,
X. Han, J. Guo, X. Wang, F. Wang, C. Ji, Z. Guan, Q. Xie, Z.
Zhu, B. Niu, T. Zhang.
2732
F Whole exome sequencing of a girl with
Rubinstein-Taybi syndrome.
H. Yoo, K. Kim, I. Kim, S.
Rho, J. Park, S. Kim, N. Kim.
2733
W A de novo deletion at 16q24.3 involving
ANKRD11
in a Japanese patient with KBG syndrome.
S. Miyatake, A. Murakami, N. Okamoto, M. Sakamoto, H.
Saitsu, N. Miyake, N. Matsumoto.
2734
T Molecular investigations of Polish patients with
Beckwith-Wiedemann syndrome.
D. Jurkiewicz, M.
Kugaudo, A. Tan´ ska, E. Ciara, D. Piekutowska-Abramczuk,
M. Pelc, S. Łuczak, J. Trubicka, M. Borucka-Mankiewicz,
P. Kowalski, A. Jezela-Stanek, A. Cies´ likowska, K.
Chrzanowska, M. Krajewska-Walasek.
2735
F Gynecologic issues in patients with Smith-
Lemli-Opitz syndrome.
M. A. Merideth, S. K. Conley, F.
D. Porter.
2736
W Maternal uniparental disomy 16 in an infant with
intrauterine growth retardation, dysmorphic features,
multiple congenital anomalies and dermatoglyphics
features suggestive of chromosomal abnormalities:
A neglected consideration.
Y. Lacassie, M. Narayanan.
2737
T Audiovestibular findings in myotonic dyst ophy
type 1 patients from the National Rehabilitation Institute.
M. Arenas-Sordo, B. Rivera-Mercado, D. Gutierrez-Tinajero,
A. Martínez-García-Ramos, M. Trujillo-Bracamontes,
O. Hernandez-Hernandez, J. Magaña-Aguirre.
2738
F A case of nonsyndromic hearing-impairment
with
GJB2 (S199F)
homozygous mutation.
G. Giraldo,
L. P. Barragan Osorio, J. C. Prieto.
2739
W Somatic
CTNNB1
mutation in hepatoblastoma
from a patient with Simpson-Golabi-Behmel syndrome
and germline
GPC3
mutation.
R. Kosaki, T. Takenouchi,
N. Takeda, M. Kagami, K. Nakabayashi, K. Kosaki.
2740
T Establishment and validation of iPS cells and
knockout mice for dermatan 4-O-sulfotransferase
1-
deficient Ehlers-Danlos synd ome.
T. Kosho, F. Yue,
S. Saka, N. Tsumita, Y. Kasahara, T. Okada, S. Mizumoto,
M. Kobayashi, J. Nakayama, N. Miyake, Y. Nomura, T. Era,
A. Hatamochi, F. Fukushima, N. Matsumoto, K. Sugahara,
K. Sasaki, S. Takeda.