Page 245 - 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
2942
W Unused Program Number
2943
T
ALDH1A3
mutations cause recessive
anophthalmia and microphthalmia.
L. Fares Taie,
N. Chassaing, S. Gerber, G. Clayton-Smith, S. Hanein,
E. Silva, M. Serey, V. Serre, X. Gerard, C. Baumann,
G. Plessis, B. Demeer, L. Bretillon, C. Bole, P. Nitschke,
A. Munnich, S. Lyonnet, P. Calvas, J. Kaplan, N. Ragge,
J. M. Rozet.
2944
F Identification of a novel locus for a ecessive
congenital myopathy by linkage analysis in an Israeli
Bedouin family.
E. Muhammad, O. Reish, Y. Ohno,
T. Scheetz, A. DeLuca, C. Searby, M. Regev, L. Benyamini,
Y. Fellig, A. Kihara, V. C. Sheffield, R. Parvari.
2945
W Identification of a new locus on ch omosome
1
for autosomal dominant retinitis pigmentosa.
K. K.
Selmer, R. Riise, M. D. Vigeland, K. Brandal, D. E. Undlien.
2946
T Molecular basis of previously uncharacterized
mental retardation syndrome.
E. Kaasinen, E. Rahikkala,
S. Miettinen, K. Palin, L. Pajunen, L. A. Aaltonen.
2947
F Novel frameshift mutation of the
ADAR1
gene
in a Chinese family with dyschromatosis symmetrica
hereditaria.
W. Cao, J. Zhang, X. Chen, Z. Zhang, H.
Wang, L. Guo, Y. Liu, X. Zhao, Q. Xing, M. Shao.
2948
W Association of genetic marker rs7576183
located downstream of the human Activin
b
-
B gene
with non-syndromic hypodontia.
L. A. Morford, P. E.
DiFranco, A. N. Vu, K. C. Kirk, G. Falcão-Alencar, M. S.
Gilbey, X. Ding, D. W. Fardo, J. K. Hartsfield, Jr.
2949
T New candidate genes in holoprosencephaly:
Results from homozygosity mapping in six inbred
families.
S. Odent, M. de Tayrac, M. Babron, C. Dubourg,
C. Mouden, R. Bouvet, S. Gazal, M. Sahbatou, L. Ratié, V.
Dupé, J. Mosser, V. David.
2950
F A frameshift mutation of
TBC1D7
,
a subunit of
the
TSC1-TSC2
complex upstream of mTORC1, causes
a new distinct clinical phenotype with intellectual
disabilities.
L. Micale, A. Abdullah Alfaiz, B. Mandriani, C.
Fusco, B. Augello, M. T. Pellico, J. Chrast, L. Zelante, A.
Reymond, G. Merla.
2951
W Exome sequencing identifies novel genes for
autosomal recessive heterotaxy-spectrum disorders.
A. E. Cast, M. Tariq, F. Rahim, M. Jelani, S. M. Ware.
2952
T Age-dependent germline mosaicism of the
most common Noonan syndrome mutation shows the
signature of germline selection.
P. Calabrese, S. Yoon,
S. Choi, J. Eboreime, B. Gelb, N. Arnheim.
2953
F Clinical spectrum of the families with multiple
synostosis syndromes with novel
NOG
mutations.
J. Kim, B. Lee, G. Kim, J. Lee, S. Choi, J. Lee, H. Yoo.
2954
W
ZFPM2
mutations in sporadic and familial
congenital diaphragmatic hernia patients.
M. Longoni,
M. K. Russell, F. A. High, K. Lage, J. Wells, C. J. Bult, K. G.
Ackerman, C. Lee, B. R. Pober, P. K. Donahoe.
2930
W Likely pathogenic hypomorphic mutation
in the perforin 1 gene causing adult-onset familial
hemophagocytic lymphohistiocytosis.
L. Massingham,
J. Walsh, N. Shur, C. Benson, P. Rintels, N. Berliner, D.
Treaba, J. Li, C. Phornphutkul.
2931
T Ancestry and genetic admixture among sickle
cell disease patients in North America.
Z. Wang, L.
Diaw, M. Barr, M. Quinn, D. Diggs, A. Oguhebe, D. Darbari,
A. Hutchinson, C. Hoppe, J. G. Taylor.
2932
F Erythropoiesis failure and ribosomal dysfunction
in zebrafish model of Diamond-Blackfan anemia
N. Kenmochi, T. Uechi, Y. Nakajima, G. Yadav, T. Sawada,
M. Ikeda.
2933
W A family based exome sequence analysis
identifies a ra e AID deficiency causing mutation enriche
in Finland.
L. Trotta, H. Almusa, M. Lepisto, P. Ellonen, S.
Hannula, A. Palotie, K. Porkka, M. Seppanen, J. Saarela.
2934
T Exome sequencing identifies
NFKB2
mutations
as a cause of autosomal dominant early-onset common
variable immunodeficienc .
K. Chen, E. Coonrod,
A. Kumanovics, Z. Franks, J. Durtschi, R. Margraf, W. Wu,
N. Augustine, P. Ridge, H. Hill, L. Jorde, A. Weyrich, G.
Zimmerman, J. Bohnsack, K. Voelkerding.
2935
F Lobar holoprosencephaly associated with
additional clinical anomalies in two daughters of a
consanguineous couple: Comparison of SNP-array
analysis results as an attempt to search for a potential
causative candidate gene.
P. M. Kroisel, B. Plecko, M.
Brunner-Krainz, M. R. Speicher, C. Windpassinger.
2936
W Infantile-onset ascending hereditary spastic
paraplegia with bulbar involvement due to the novel
ALS2
mutation c.2761C
.
T.
S. Majid, R. Abuthuraya, K.
Ramzan, S. Hagos, H. Al-Dossari, R. Al-Omar, H. Murad,
A. Chedrawi, Z. Al-Hassnan, S. Bohlega.
2937
T A mutation in the
SCN10A
voltage-gated sodium
channel genes causes a novel autosomal recessive
progressive neuromuscular disease and epilepsy-
related syndrome.
M. Kambouris, T. Ben-Omran, Y. Al-
Sarraj, Y. Bejaoui, M. Almuriekhi, H. Boulos, H. El-Shanti.
2938
F Duplication of
EYA1
causes branchiootic
syndrome in a Brazilian family.
R. Mingroni-Netto, V. G.
L. Dantas, E. L. Freitas, A. M. S. M. Moraes, M. C. C.
Braga, S. B. Ramos, C. Rosenberg, V. A. Della-Rosa.
2939
W DNA copy-number variations in prune belly
syndrome.
S. Harrison, L. Baker.
2940
T A mutation at the H2B histone family, member
W
H2BFWT
gene causes a novel X-linked mental
retardation with abnormal head shape syndrome.
V. Chini, R. Ali, N. Khattab, T. Bin Omran, Y. Al-Sarraj,
M. Kambouris, H. El-Shanti.
2941
F The solute carrier
SLC26A9
accounts for
variability in biomarkers of cystic fib osis-related
prenatal exocrine pancreatic damage.
M. R. Miller, D.
Soave, W. Li, T. Chiang, J. Gong, H. Levy, L. Sun, J. M.
Rommens, F. Accurso, P. Durie, M. K. Sontag, L. J. Strug.