Page 249 - 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
3028
F Gain and loss of function mutations in
PDE4D
result in two different developmental disorders with
mirrored phenotypes.
A. Lindstrand, G. Grigelioniene, D.
Nilsson, M. Pettersson, B. M. Anderlid, P. Gustavsson, H.
Valta, S. Geiberger, K. Lagerstedt, F. Taylan, J. Wincent,
T. Laurell, M. Pekkinen, M. Nordenskjöld, O. Mäkitie, A.
Nordgren.
3029
W Loss of function mutations in carbonic
anhydrase XII result in hyponatremic dehydration and
elevated sweat chloride concentration.
B. Vecchio-
Pagán, M. Lee, N. Sharma, A. Waheed, D. Belchis, J.
Hertecant, W. Sly, G. R. Cutting.
3030
T A novel splicing silencer generated by
dystrophin exon 45 deletion could explain exon 44
skipping that modifies dyst ophinopathy.
M. Matsuo,
E. M. Dwianingsih, R. G. Maliueka, A. Nishida, T. Lee, M.
Yagi, K. Iijima, Y. Takeshima.
3031
F Skin-specific kallik ein-5 transgenic mice
recapitulate the main features of Netherton syndrome
and provide a viable model for therapeutic approaches.
L. Furio, S. de Veer, C. Deraison, A. Briot, C. Bonnart, A.
Robin, A. Hovnanian.
3032
W Unravelling the molecular mechanisms of
pathogenesis of incontinentia pigmenti Mendelian
disorder.
F. Fusco, M. I. Conte, A. Pescatore, E. Esposito,
M. Paciolla, M. G. Miano, M. B. Lioi, J. P. Bonnefont, S.
Hadj-Rabia, C. Bodemer, G. Royer, A. Smahi, J. Steffann,
M. V. Ursini.
3033
T Clinical whole exome sequencing identifie
mutations in
UPK3A
in individuals with renal adysplasia.
M. R. Bekheirnia, Z. Niu, D. A. Scott, L. Potocki, P. Lurix, J.
W. Belmont, D. J. Lamb, Y. Yang, C. M. Eng.
3034
F Molecular etiology of the Mayer-Rokitansky-
Küster-Hauser syndrome.
A. Ekici, C. Büttner, P. Strissel,
P. Oppelt, S. Renner, M. Beckmann, R. Strick.
3035
W Variable phenotype in individuals with a
MUC1
mutation causing medullary cystic kidney disease
type1.
S. Kmoch, A. J. Bleyer, K. Kidd, K. Hodanova, M.
Zivna, P. Vyletal, H. Hartmannova, V. Stranecky.
3036
T Unbiased next -generation sequencing analysis
confirms the existence of autosomal dominant Alport
syndrome.
C. Fallerini, L. Dosa, D. Giachino, R. Tita, M.
Baldassarri, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi,
A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, R.
Artuso, G. M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E.
Frate, A. R. Pinciaroli, M. Giani, P. Castorina, E. Bresin, F.
Mari, M. Bruttini, M. De Marchi, F. Ariani, A. Renieri.
3037
F A novel truncating mutation in
SOX18
dramatically impairs renal function in the
hypotrichosis-lymphedema-telangiectasia syndrome.
S. Moalem, P. Brouillard, D. Kuypers, E. Legius, E. Harvey,
M. Francois, M. Vikkula, C. Chitayat.
3038
W Exome sequencing for diagnosis of disorders
of sex development.
E. Vilain, V. A. Arboleda, H. Lee, A.
Eskin, S. F. Nelson, R. M. Baxter.
3018
T Proteolipid protein 1 and gap junction
a
12
gene mutations in 72 Chinese patients
with Pelizaeus-Merzbacher disease/Pelizaeus-
Merzbacher-like disease and prenatal diagnosis
of 15 fetuses in twelve Chinese families with PMD
probands.
J. Wang, D. Li, Y. Wu, J. Xiao, Q. Gu, H.
Zhao, J. Shang, Y. Yang, X. Bao, H. Xiong, Y. Zhang,
T. Ji, M. Li, Y. Meng, F. Fang, Z. Niu, J. Qin, H. Shi, F.
Zhang, X. Wu, Y. Jiang.
3019
F Comprehensive mutation analysis of 421 cases
with Charcot-Marie-Tooth disease using microarray
and exome sequencing.
A. Yoshimura, A. Hashiguchi, Y.
Higuchi, J. Yuan, Y. Okamoto, T. Nakamura, J. Mitsui, H.
Ishiura, Y. Takahashi, J. Yoshimura, K. Doi, S. Morishita, S.
Tsuji, H. Takashima.
3020
W Abnormal copy number variants are frequent in
patients with malformations of cortical development
associated with epilepsy.
F. R. Torres, D. A. Souza, M. M.
Guerreiro, M. A. Montenegro, A. C. dos Santos, V. C. Terra,
A. C. Sakamoto, F. Cendes, I. Lopes-Cendes.
3021
T Sensorineural hearing loss in
OPA1
-
linked
disorders.
D. Bonneau, S. Leruez, E. Colin, D. Milea, S.
Defoort-Dhellemmes, M. Crochet, C. Verny, M. Ferré, J.
Lamblin, V. Drouin, C. Vincent-Delorme, G. Lenaers, C.
Blanchet, G. Juul, M. Larsen, V. Procaccio, P. Reynier, P.
Amati-Bonneau.
3022
F Targeted re-sequencing of the human X
chromosome exome expands the phenotypic spectrum
of
ATP7A
mutations.
S. Moutton, A. Delahodde, M.
Langouet, C. Bole-Feysot, K. Siquier-Pernet, P. Nitschke,
C. Vasnier, S. Hadj-Rabia, L. Yi, A. Drecourt, K. Patel, N.
Boddaert, A. Munnich, J. P. Bonnefont, S. G. Kaler, J.
Amiel, L. Colleaux.
3023
W Phenotypic and transcriptomic characterization
of the RPE affected by mutations that cause RNA
splicing factor retinitis pigmentosa.
M. H. Farkas, E. F.
Nandrot, E. D. Au, D. Lew, K. Bujakowska, M. E. Sousa, D.
G. Taub, S. S. Bhattacharya, E. A. Pierce.
3024
T The recruitment of RNA polymerase II is
impaired in Cornelia de Lange syndrome.
A. Musio, S.
Bilodeau, C. Amato, V. Quarantotti, F. Cucco, I. Krantz, L.
Mannini.
3025
F Characterization of novel mutations found in
classical and infertile CF males of Indian population:
A molecular approach to establish genotype and
phenotype correlation.
R. Prasad, H. Sharma, F. Becq.
3026
W Distinct prevalence of homozygous p.V37I
variant of
GJB2
in Chinese Hans with severe-to-
profound, mild-to-moderate or normal hearing
phenotype.
Y. Chai, Y. Tao, H. Wu.
3027
T Mosaic missense mutations in the RNase IIIb
domain of
DICER1
cause JANUS, a novel overgrowth
syndrome.
S. Klein, H. Lee, S. Ghahremani, P. Kempert,
M. Ischander, M. A. Teitell, S. F. Nelson, J. A. Martinez-
Agosto.