Page 239 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2830
W Bestrophin mutation within Ca
2
binding domain
alters Cl conductance.
S. Brar, B. Pattnaik, P. Halbach,
S. Tokarz, D. Pillers.
2831
T Functional characterization of
SLC2A9
allelic
variants in Czech population.
B. Stiburkova, O. Hurba, V.
Krylov, A. Mencikova.
2832
F Identification of a missense mutation outside
the forkhead domain of
FOXL2
causing a severe form
of BPES type II.
H. Haghighi-Kakhki, A. Haghighi, H.
Verdin, N. Piri, N. Saleh-Gohari, E. De Baere.
2833
W The UBIAD1 prenyltransferase links
menaquione-4 synthesis to cholesterol metabolic
enzymes.
M. Nickerson, A. Bosley, J. Weiss, B. Kostiha,
W. Brandt, T. Andresson, T. Okano, M. Dean.
2834
T Intergenic or 5’UTR deletion of transcription factor
4 (
TCF4
)
gene in Pitt-Hopkins syndrome.
J. Lee, S.-U.
Moon, E. Shin, S. Hassed, J. Chanloner, X. Wang, S. Li.
2835
F No evidence of genetic difference for clinical
severity between monozygotic twins with Rett
syndrome.
T. Kubota, K. Miyake, T. Hirasawa, Y.
Minakuchi, A. Toyoada.
2836
W Two-nucleotide deletion of the
ATP7A
gene,
leading not to premature termination, but to translation
reinitiation, produces mild phenotype in a male
Menkes disease patient.
T. Wada, T. Murakami, H.
Shimbo, H. Osaka, H. Kodama.
2837
T Retinoic acid induced 1,
RAI1
:
Molecular and
functional studies to understand its relationship to
neurobehavioral alterations.
K. Walz, I. C. Perez, P.
Carmona-Mora, C. Abad, C. P. Canales, L. Cao, A. K.
Srivastava, J. I. Young.
2838
F RAB11FIP1 interacts with the BLOC-1 complex
to retrieve melanogenic proteins from the recycling
pathway and a dominant negative mutation in
RAB11FIP1
causes Hermanksy-Pudlak syndrome type
10.
A. R. Cullinane, J. Pan, M. A. Merideth, J. A. Curry, J.
G. White, M. Huizing, W. A. Gahl.
2839
W Two novel
RRM2B
gene mutations in a patient
with autosomal recessive progressive external
ophthalmoplegia, encephalopathy and cytochrome c
oxidase deficiency.
N. S. Hauser, R. Bai.
2840
T Isogenic D4Z4 contracted and non-contracted
immortal muscle cell clones as a model for FSHD.
S.
van der Maarel, Y. Krom, J. Dumonceaux, K. Mamchoui,
B. den Hamer, V. Mariot, E. Negroni, L. Geng, R. Tawil, S.
Tapscott, B. van Engelen, V. Mouly, G. Butler-Browne.
2841
F MEFV second exon variation analysis in familial
Mediterranean fever.
A. K. Kirectepe, G. Celikyapi Erdem,
O. Kasapcopur, E. Tahir Turanli.
2842
W Role of
NLRP7
in recurrent hydatidiform moles
and reproductive wastage.
R. Slim, C. Messaed, E.
Akoury, W. Chebaro, W. Buckett, J. Arseneau, P. Sauthier.
2818
W Explore the impact of parkin mutations in ER-
associated protein degradation: Cellular models for
juvenile PD.
M. Alves-Ferreira, S. Morais, J. Sequeiros, I.
Alonso.
2819
T A nonsense mutation in
DHTKD1
causes
Charcot-Marie-Tooth disease type 2 in a large Chinese
pedigree.
M. Gu, W. Xu, L. Sun, W. Guo, J. Ma, S. Chen,
W. Huang, Z. Wang.
2820
F Identification of the
SPG46
gene by next-
generation sequencing in four families with autosomal
recessive complicated spastic paraplegia.
G. Stevanin,
R. Schüle, K. Smets, E. Martin, S. Zuchner, L. J. Loureiro,
A. Boukhris, A. Rastetter, T. de Coninck, M. Gonzalez, E.
Mundwiller, F. Lamari, G. Gyapay, P. Coutinho, C. Mhiri, P.
de Jongue, E. Kabashi, A. Brice.
2821
W A balanced (1q32;14q31) translocation
associated with epilepsy, learning disability and
leukemia has breakpoints in developmental genes as
detected by whole-genome sequencing.
M. I. Rees, S.
Ali, R. H. Thomas, J. G. Mullins, M. Kerr, S. K. Chung.
2822
T A
DYNC1H1
mutation causes a quadriceps-
dominant neurogenic muscular atrophy.
S. Saitoh, Y.
Tsurusaki, K. Tomizawa, A. Sudo, N. Asahina, H. Shiraishi, J.
Ito, H. Tanaka, H. Doi, H. Saitsu, N. Miyake, N. Matsumoto.
2823
F Late-onset Charcot-Marie-Tooth disease 4F
caused by periaxin gene mutation.
S. Tokunaga, A.
Hashiguchi, A. Yoshimura, K. Maeda, T. Suzuki, H. Haruki,
T. Nakamura, H. Takashima.
2824
W Detection of slipped-DNAs at the trinucleotide
repeats of the myotonic dystrophy type I disease locus
in patient tissues.
M. M. Axford, Y.-H. Wang, M. Nakamori,
M. Zannis-Hadjopoulos, C. Thornton, C. E. Pearson.
2825
T A lyonization study in heterozygous females
for X-linked adrenoleukodystrophy.
F. S. Pereira, C.
Habekost, U. Matte, L. B. Jardim.
2826
F Mutations in
CUL4B
,
a member of the Cullin-
RING ubiquitin ligase complex, cause syndromic
X-linked intellectual disability associated with short
stature.
A. K. Srivastava, M. Cook, K. Corrier, L. Lee, S. S.
Cathey, F. Bartel, K. R. Holden, C. Skinner, A. D. Chaubey,
B. R. DuPont, N. VerBerkmoes, R. J. Schroer.
2827
W Identification of novel exon splice enhancers
in the growth hormone gene (
GH1
)
mutated in isolated
GH deficiency.
D. Babu, I. Fusco, S. Mellone, M. Godi, A.
Petri, F. Prodam, S. Bellone, P. Momigliano-Richiardi, G.
Bona, M. Giordano.
2828
T Functional analysis of R75Q dominant mutation
and in cis recessive mutation V37I of
GJB2
gene
causing hearing loss in a Korean family.
J. Kim, J. Jung,
Y. Kim, J. Choi, K. Lee.
2829
F Progressive hearing impairment with
homozygous deletion in
GJB2
gene (Connexin-26) and
normal newborn hearing screening.
N. Lublinghoff, E.
Löhle, R. Birkenhäger.