Page 236 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
225
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2761
W
ELN
mutations in autosomal dominant cutis
laxa.
E. Lawrence, M. McGowan, C. Su, M. Mac Neal, K.
Levine, A. Zaenglein, M. Bodzioch, A. Kiss, Z. Urban.
2762
T
RIPK4
mutations explain a portion of
IRF6
-
negative popliteal pterygium cases.
E. J. Leslie, S.
Goudy, M. Cunningham, J. C. Murray.
2763
F Sacsin-related ataxia caused by the novel
missense mutation Arg272His in a patient from
Southern Italy.
F. Cavalcanti, A. Nicoletti, G. Annesi, P.
Tarantino, M. Gagliardi, G. Mostile, V. Dibilio, A. Quattrone,
A. Gambardella, M. Zappia.
2764
W SCA36 molecular analysis in patients with
spinocerebellar ataxia.
D. Di Bella, E. Sarto, C. Mariotti,
C. Gellera, S. Magri, F. Taroni.
2765
T Germline CAG repeat instability causes
extreme CAG repeat expansion with infantile onset
of spinocerebellar ataxia type 2 in offspring.
J. Ek, T.
Vinther-Jensen, M. Dunoe, F. Skovby, L. E. Hjermind, J. E.
Nielsen, T. T. Nielsen.
2766
F Genetic aspects of Dravet syndrome in southern
Italy.
M. Gagliardi, P. Tarantino, F. Cavalcanti, M. Sesta, P.
Conti, D. Galeone, G. Tortorella, A. Labate, M. Caracciolo, T.
Mirante, A. Bagal‡, A. Quattrone, A. Gambardella, G. Annesi.
2767
W Vacuolar-type H -ATPase V1A subunit is a
molecular partner of Wolfram syndrome 1 protein,
which regulates its stability and expression.
S.
Gharanei, M. Zatyka, D. Astuti, J. Fenton, E. Rabai, A. Sik,
Z. Nagy, T. Barrett.
2768
T Altered expression of carbonic anhydrase-
related protein XI in neuronal cells expressing mutant
ataxin-3.
M. Hsieh, W. H. Chang, C. F. Hsu, C. L. Kuo, I.
Nishimori, T. Minakuchi, N. Nukina.
2769
F Alterations in RNA splicing underlie
development of ataxia in SCA1 mice.
M. A. C. Ingram, P.
Bergmann, H. Kang, H. Y. Zoghbi, H. T. Orr.
2770
W Clinical spectrum of intragenic
CAMTA1
rearrangements: From non-progressive congenital
ataxia to intellectual disability.
E. Lopez, J. Thevenon,
B. Keren, D. Heron, C. Mignot, C. Altuzara, M. Béri-
Dexheimer, C. Bonnet, L. Burglen, D. Minot, J. Vigneron,
P. Charles, A. Brice, L. Gallagher, J. Amiel, C. Mach, C.
Depienne, D. Doummar, L. Duplomb, V. Carmignac, P.
Callier, A.-L. Mosca-Boidron, V. Roze, B. Aral, F. Razavi, P.
Jonveaux, L. Faivre, C. Thauvin-Robinet.
2771
T Analysis of human mitochondrial aminoacyl-tRNA
synthetase complexes in patients with
MARS2
mutations.
I. Thiffault, F. Sasarman, T. Nishimura, E. A. Shoubridge.
2772
F Mutations in
GPSM2
cause the brain
malformations and hearing loss of Chudley-
McCullough syndrome.
D. Doherty, A. E. Chudley, G.
Coghlan, G. E. Ishak, A. M. Innes, E. G. Lemire, R. C.
Rogers, A. A. Mhanni, I. G. Phelps, S. J. M. Jones, S. H.
Zhan, A. P. Fejes, H. Shahin, M. Kanaan, H. Akay, M. Tekin,
B. Triggs-Raine, T. Zelinski, FORGE Canada Consortium.
2749
W A newly identified locus for benign adult familial
myoclonic epilepsy on chromosome 3q26.32-3q28.
P. Yeetong, S. Ausavarat, R. Bhidayasiri, K. Piravej, N.
Pasutharnchat, T. Desudchit, C. Chunharas, J. Loplumlert,
C. Limotai, K. Suphapeetiporn, V. Shotelersuk.
2750
T Calpain-5 causes autoimmune uveitis, retinal
neovascularization and photoreceptor degeneration.
V.
B. Mahajan, J. M. Skeie, A. G. Bassuk, J. H. Fingert, T. A.
Braun, H. T. Daggett, J. C. Folk, V. C. Sheffield, E. M. Stone.
2751
F Soluble ICAM-1 levels are associated to a
protective prognosis in sickle cell retinopathy.
P. R. S.
Cruz, T. R. Zaccarioto, F. N. Mitsuuchi, S. A. C. Pereira
Filho, R. P. C. Lira, I. Meyer, M. A. C. Bezerra, K. Y. Fertrin,
F. F. Costa, M. B. Melo.
2752
W X-linked CHARGE-like Abruzzo-Erickson
syndrome and classic cleft palate with ankyloglossia
result from, i>TBX22 splicing mutations.
P. Stanier, E.
Pauws, E. Peskett, C. Boissin, K. Mengrelis, E. Carta, M.
A. Abruzzo, M. Lees, G. E. Moore, R. P. Erickson.
2753
T Enlarged vestibular aqueduct syndrome:
Characterization of three new mutations.
E. Prera, S.
Arndt, A. Aschendorff, R. Birkenhäger.
2754
F A novel molecular basis for Carpenter
syndrome.
S. Movva, U. Kotecha, R. Puri, I. C. Verma.
2755
W De novo activating mutations in
phosphatidylserine synthase 1 cause a rare mental
retardation-multiple congenital anomalies syndrome.
S. B. Sousa, D. Jenkins, E. Chanudet, A. Barnicoat,
K. Chrzanowska, J. Sá, J. Saraiva, R. Scott, D.
Wattanasirichaigoon, G. Anderson, G. Tasseva, J. Vance,
P. Beales, G. E. Moore.
2756
T Exome sequencing of a consanguineous
Palestinian kindred with syndromic cleft palate.
H.
Shahin, U. Sharaha, M. Lee, S. Saed, J. van Aalst, M. C.
King, T. Walsh.
2757
F Mutations in the
DOCK6
gene in Adams-Oliver
syndrome.
W. Wuyts, A. Laureys, E. Van Hul, M. De
Smedt, K. Storm, N. Van der Aa.
2758
W Novel mutations of the
FGD1
gene in 16
patients with Aarskog-Scott syndrome.
T. Kaname,
K. Yanagi, N. Okamoto, K. Kurosawa, Y. Izumikawa,
Y. Fukushima, Y. Makita, M. Tsukahara, A. Altincik, S.
Mizuno, K. Naritomi.
2759
T Exome sequencing identifies an
IFIH1
mutation
causing Singleton-Merten syndrome by dysregulation
of the innate immune response.
F. Rutsch, M.
MacDougall, C. Lu, Y. Nitschke, I. Buers, O. Mamaeva, D.
K. Crossman, J. Dong, C. Müller, H. G. Kehl, J. Kleinheinz,
P. Barth, K. Barczyk, D. Bazin, J. Altmüller, H. Thiele, P.
Nürnberg, W. Höhne, A. S. Feigenbaum, R. Hennekam.
2760
F Mutations in
PVRL1
and
PVRL4
genes define
nectinopathies as developmental field disorders of
ectodermal derivatives and cutaneous syndactyly with
or without cleft lip/palate.
E. Agolini, P. Fortugno, L.
B. Ousager, A. Bygum, L. Graul-Neumann, K. Stieler, A.
Kuechler, G. Zambruno, F. Brancati.