Page 239 - 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
2792
F
CTNNB1
mutation in siblings with intellectual
disability, spasticity and microcephaly.
D. Tegay.
2793
W Molecular genetic characterization of
INSR
in a
family with Rabson-Mendenhall syndrome.
P. Kantheti,
S. Agadi, Y. Gowda.
2794
T Microarray analysis of a de novo microdeletion
involving the Van der Woude syndrome locus.
E. C. Tan,
E. C. P. Lim, S. T. Lee.
2795
F A novel
TPM3
gene muation with infantile
nemaline myopathy.
S. O. Nam, J. H. Shin, Y. J. Lee.
2796
W Male infant with Freeman-Sheldon syndrome
and an incidental diagnosis of Duchenne/Becker
muscular dystrophy.
K. Oishi, E. Quinn, M. Babcock,
L. Edelmann, S. Scott, A. Yang, G. Diaz.
2797
T Whole exome sequencing identifies a homozygou
mutation in the
SPG11
gene in patients with spastic
paraplegia.
V. Adir, A. Shalata, E. Shahak, Z. U. Borochowitz.
2798
F Identification of a new hypouricemia patient
with a pathogenic
GLUT9/SLC2A9
mutation (R380W).
M. Sakiyama, H. Matsuo, T. Chiba, A. Nakayama, Y.
Kawamura, S. Shimizu, N. Hamajima, N. Shinomiya.
2799
W The manifestation of Mowat-Wilson syndrome
in adult identical twins.
S. Ramanathan, S. A. Ashwal,
R. D. Clark.
2800
T Occurrence of recurrent optic neuritis and
cervical cord Schwannoma with Charcot-Marie-Tooth
type 4B1 disease: A case report.
P. Scott, F. Almurshedi.
2801
F Novel homozygous missense mutation in the
matrix metalloproteinase 2 catalytic domain leading
to protein loss-of-function in two Italian sibs in the
spectrum of Torg-Winchester syndrome.
J. Azzollini, D.
Rovina, C. Gervasini, I. Parenti, A. Fratoni, L. Pietrogrande,
L. Larizza.
2802
W A patient with Simpson-Golabi-Behmel
syndrome, biliary cirrhosis and successful liver
transplantation.
B. Demeer, G. Guillaume Jedraszak, M.
Girard, A. Mellos, D. Djeddi, C. Chardot, A. Varenterghem,
M. P. Moizard, J. Gondry, H. Sevestre, M. Mathieu-
Dramard, F. Lacaille.
2803
T Exome sequencing of a proband with bilateral
sensorineural hearing loss furthers insights into
phenotypic variability of Waardenburg syndrome.
A. Wilkens, M. Dulik, N. Qu, K. Wang, J. Brunton, V.
Jayaraman, E. Dechene, N. Spinner, W. Liu, I. Krantz.
2804
F Use of quantitative ultrasound for tibial dysplasia
in neurofib omatosis type 1.
D. A. Stevenson, H. Slater,
H. Hanson, A. Stevens, J. C. Carey, D. H. Viskochil.
2805
W New syndrome of ectrodactyly and lethal
pulmonary acinar dysplasia associated with homozygous
FGFR2
mutation identified by exome sequencing
C. P.
Barnett, N. J. Nataren, M. Klingler-Hoffmann, Q. Schwarz,
D. L. Bruno, J. Lipsett, A. J. McPhee, A. W. Schreiber, J. H.
Feng, C. N. Hahn, H. S. Scott.
2779
T First molecular study of Kindler syndrome in
three Iranian families: Novel and recurrent mutations
in the
FERMT1
gene.
H. Vahidnezhad, L. Youssefian, A.
Yazdanfar, A. M. Kajbafzadeh, F. Agha-Hosseini, M. Tabrizi.
2780
F Genotype-phenotype relationships in Freeman-
Sheldon syndrome.
A. E. Beck, M. J. McMillin, H. I. S.
Gildersleeve, K. M. B. Shively, M. J. Bamshad.
2781
W A 24bp deletion in
ELN
causing a Marfan-like
phenotype.
J. Hoyer, C. Kraus, A. Reis.
2782
T Multiple pterygium syndrome, Escobar variant,
in a patient with a congenital diaphragmatic hernia and
prenatally-diagnosed arthrogryposis.
A. L. Sutton, M. D.
Descartes.
2783
F Congenital dyserythropoieic anemia type 1
presenting with blueberry muffin rash and p ofound
anemia.
L. Turner, L. Goodyear, L. Bowes, S. Fernandez,
A. Hogg.
2784
W Whole exome sequencing uncovers mutations in
MYH9
associated with expanded phenotype spectrum.
C. Kao, J. Liang, A. Alodaib, Y. Guo, L. Tian, X. Liu, L. Dai,
B. Keating, M. Menezes, W. Gold, M. Wilson, L. Ades, J.
Zhang, A. Kakakios, J. Wang, H. Hakonarson, J. Teo.
2785
T Mutations in
FAM111B
cause hereditary
fib osing poikiloderma with tendon contracture,
myopathy and pulmonary fib osis.
S. Mercier, S. Küry,
G. Shaboodien, D. Houniet, N. Khumalo, J.-M. Mussini,
E. Salort-Campana, D. Figarella, N. Bodak, A. Munnich, R.
Gherardi, V. Cormier-Daire, C. Thauvin, L. Faivre, K. Pillay,
C. Bou-Hanna, C. Laboisse, A. Hamel, A. Magot, C. Le
Caignec, A. David, S. Barbarot, B. Keavney, S. Bézieau,
B. Mayosi.
2786
F Identification of human
MALT1
deficiency and
role of the NF-kappa B pathway in a novel autosomal
recessive immune deficiency and dys egulation
disorder.
M. L. McKinnon, J. Rozmus, S. Fung, A.
Hirschfeld, K. Del Bel, L. Thomas, N. Marr, S. Martin, C.
Senger, A. Tsang, J. Prendiville, A. Junker, M. Seear, K.
Schultz, L. Sly, R. Holt, M. Patel, J. M. Friedman, S. Turvey.
2787
W Familial occurrence of multiple isolated
epidermal inclusion cysts: Evidence for X-linked
inheritance?
J. Jenkins, K. Horii, H. Ardinger.
2788
T Intragenic deletion of
NPAS3
in a child with
developmental delay.
C. Armour, E. Baxter, J. McGowan-
Jordan.
2789
F Dyggve-Melchior-Clausen syndrome in three
generations.
B. Bozorgmehr, A. Kariminejad.
2790
W Novel de novo
SPOCK1
mutation in a proband
with developmental delay, microcephaly and agenesis
of corpus callosum.
R. Dhamija, J. Graham, E. Thorland,
S. Kirmani.
2791
T
FOXP1
mutations cause intellectual disability
and a recognizable phenotype.
M. F. Hunter, A. K. Le
Fevre, S. Taylor, N. H. Malek, D. Horn, C. W. Carr, O. A.
Abdul-Rahman, S. O’Donnell, T. Burgess, M. Shaw, J.
Gecz, N. Bain, K. Fagan.