Page 243 - ASHG 2012 Annual Meeting Program Guide

232
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2923
W Exome sequencing identified a novel mutation
in
CACNA1S
in a Japanese family with malignant
hyperthermia.
N. Matoba, H. Iwasa, M. Kohda, Y.
Yatsuka-Kanesaki, Y. Ichihara, H. Kikuchi, Y. Suzuki, S.
Sugano, Y. K. Hayashi, I. Nishino, Y. Okazaki.
2924
T Identification of a novel missense mutation
in
RAD51
in a large family with congenital mirror
movements.
O. E. Onat, S. Gulsuner, R. Bilgen, G. M. Dal,
K. Bilguvar, H. Boyaci, K. Doerschner, H. Uysal, M. Gunel,
T. Ozcelik.
2925
F De novo mutations of the gene encoding the
histone acetyltransferase KAT6B cause genitopatellar
syndrome.
M. A. Simpson, C. Deshpande, D. Dafou, L. E.
L. M. Vissers, W. J. Woollard, S. E. Holder, G. Gillessen-
Kaesbach, R. Derks, S. M. White, P. Cohen-Snuijf, S. G.
Kant, L. H. Hoefsloot, W. Reardon, H. G. Brunner, E. M. F.
H. Bongers, R. C. Trembath.
2926
W Focal facial dermal dysplasia, type IV is
associated with mutations in
CYP26C1
.
A. Slavotinek, P.
Mehrotra, B. Li, I. Nazarenko, P. Ling-Fung, R. Z. Lao, C.
Chu, M. Yahyavi, C. Chou, A. L. Marqueling, K. Cordoro, I.
Frieden, M.-A. Morren, K. Devriendt, T. Prescott, T. Glaser,
P.-Y. Kwok, M. Petkovich, R. Desnick.
2927
T Identity-by-descent mapping reveals a new
locus for primary congenital glaucoma, GLC3E, on
chromosome 19p13.2.
H. Verdin, B. P. Leroy, B. D’haene,
F. Coppieters, S. Lefever, P. G. Kestelyn, E. De Baere.
2928
F Mutations in
HOXB1
cause autosomal
recessive congenital facial palsy with sensorineural
hearing loss and strabismus.
B. D. Webb, S. Shaaban,
H. Gaspar, L. F. Cunha, C. R. Schubert, K. Hao, C.
D. Robson, W. Chan, C. Andrews, S. MacKinnon,
D. T. Oystreck, D. G. Hunter, A. J. Iacovelli, X. Ye, A.
Camminady, E. C. Engle, E. W. Jabs.
2929
W Genetic heterogeneity underlying female
infertility and sensorineural hearing loss and
identification of
LARS2
as a third gene for Perrault
syndrome.
S. B. Pierce, T. Walsh, R. Michaelson-Cohen,
R. E. Klevit, M.-C. King, K. Gersak, E. Levy-Lahad.
2930
T Exome sequencing in apparently recessive
and apparently X-linked HSP families identifies an
ATL1
mutation hotspot which is associated with low
penetrance dominant inheritance.
C. Beetz, R. E.
Varga, H. Fadel, R. Schüle, I. Valenzuela, F. Speziani,
G. Rudenskaja, G. Nürnberg, H. Thiele, J. Altmüller, V.
Alvarez, J. Gamez, P. Nürnberg, S. Zuchner.
2931
F Autosomal recessive lethal congenital
contractural syndrome type 4 caused by a mutation in
MYBPC1
.
O. S. Birk, B. Markus, G. Narkis, R. Z. Birk, I.
Cohen, D. Landau.
2932
W Exome sequencing of a pedigree with caudal
regression syndrome.
G. Cheng, E. H. M. Wong, P.
C. Sham, S. S. Cherny, S. Maas, S. W. Scherer, C. R.
Marshall, S. L. Pereira, P. K. H. Tam, M.-M. Garcia-Barceló.
2912
T
CIAS1
mutations associate with familial
Mediterranean fever in Turkish patients and a novel
V734G mutation in
MEFV
.
E. Yosunkaya, N. Buyru.
2913
F Exome sequencing of a dog trio affected with a
canine progressive retinal degeneration.
S. J. Ahonen,
H. Lohi.
2914
W Mutations in NESP4, a KASH domain protein
linking the nucleus to the cytoskeleton, lead to hearing
impairment in humans and mice.
K. B. Avraham, Z.
Brownstein, H. F. Horn, D. R. Lenz, S. Shivatzki, A. Dror, K.
J. Roux, S. Kozlov, B. Burke, C. L. Stewart.
2915
T Genetic characterization of a large keratinization
disorder cohort, utilizing whole exome sequencing to
discover mutations in known and novel genes.
L. M.
Boyden, C. Tian, C. Saraceni, E. Loring, L. Milstone, R. P.
Lifton, H. Vernon, D. Zand, A. S. Paller, K. A. Choate.
2916
F X-linked familial focal segmental
glomerulosclerosis with first-degree heart block
caused by a mutation in the
NXF5
gene.
T. Esposito, R.
A. Lea, B. H. Maher, D. Moses, H. C. Cox, S. Magliocca,
V. D’Alessio, A. Angius, T. Titus, T. Kay, A. Parnham, F.
Gianfrancesco, L. R. Griffiths.
2917
W Mutations in
SLC52A2
impair riboflavin
transport and cause Brown-Vialetto-Van Laere
syndrome.
T. B. Haack, C. Makowski, Y. Yao, E. Graf,
M. Hempel, T. Wieland, U. Tauer, U. Athing, J. A. Mayr, P.
Freisinger, H. Yoshimatsu, K. Inui, T. M. Strom, T. Meitinger,
A. Yonezawa, H. Prokisch.
2918
T Identification of a causative variant underlying
nonsyndromic autosomal-dominant intellectual
disability in an extended family.
N. Jinawath, B. Pupacdi,
E. Wohler, V. Charoensawan, D. Wattanasirichaigoon.
2919
F Targeted exome capture and paired-end
massively parallel sequencing reveals new mutations
for human hereditary deafness in the Middle East.
M. Kanaan, Z. Brownstein, A. Abu Rayyan, D. Karfunkel,
D. Dweik, Y. Bhonker, A. Yeheskel, L. Friedman, N. Kol,
O. Yaron, V. Oron-Karni, M. Frydman, N. Shomron, K. B.
Avraham.
2920
W Defective ion transport in sweat glands cause
generalized isolated anhidrosis.
J. Klar, M. Sobol, K.
Mäbert, M. Tariq, M. Rasool, M. Jameel, T. Naeem, N. A.
Malik, A. Johansson, L. Feuk, S. M. Baig, N. Dahl.
2921
T Exome sequencing identifies a novel mutation
in
GJA1
as the cause of alopecia, leukonychia, skin
hyperkeratosis and craniofacial anomalies.
Z. Lin, H.
Wang, J. Zhang, Q. Chen, M. Lee, X. Wang, R. Li, Y. Yang.
2922
F Mutation discovery in ENU-derived mouse
models for metabolic bone disease by whole
chromosome and whole exome sequencing.
B. Lorenz-
Depiereux, S. Sabrautzki, S. Diener, E. Graf, T. Wieland,
A. Benet-Pagès, S. Eck, B. Rathkolb, M. Klaften, J. A.
Aguilar-Pimentel, J. Calzada-Wack, E. Janas, E. Wolf, M.
Ollert, F. Neff, M. Hrabé de Angelis, T. M. Strom.