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Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19)
SESSION 18 – Biochemical Genetics
Room 710B, Level 7, Convention Center
Moderators:
Hans Andersson, Tulane Univ. Med. Ctr.,
USA; Nancy Braverman, McGill Univ., Canada
67
/4:15
NBEAL2
is mutated in gray platelet
syndrome and is required for biogenesis of platelet
alpha-granules.
T. Vilboux, T. C. Falik-Zaccai, Y.
Zivony-Elboum, F. Gumruk, M. Cetin, M. Khayat, C. F.
Boerkoel, N. Kfir, Y. Huang, D. Maynard, H. Dorward,
K. Berger, R. Kleta, M. Arat, A. S. Freiberg, B. E.
Kehrel, K. Jurk, P. Cruz, J. C. Mullikin, J. G. White, M.
Huizing, W. A. Gahl, M. Gunay-Aygun.
68
/4:30
A novel human peroxisome biogenesis
disorder affecting peroxisome division.
H. R.
Waterham, M. S. Ebberink, J. Koster, I. Stolte-Dijkstra,
F. J. van Spronsen, G. P. A. Smit, G. Visser, R. J. A.
Wanders.
69
/4:45
Mutations in
ABCD4
cause a new inborn
error of vitamin B
12
metabolism.
J. C. Kim, D.
Coelho, I. R. Miousse, S. Fung, M. du Moulin, I. Buers,
T. Suormala, M. Stucki, P. Nürnberg, H. Thiele, N.
Longo, M. Pasquali, E. Mengel, D. Watkins, E. A.
Shoubridge, F. Rutsch, J. Majewski, M. Baumgartner,
B. Fowler, D. S. Rosenblatt.
70
/5:00
A homozygous mutation in the ganglioside
biosynthetic enzyme, ST3GAL5, results in a severe
autosomal recessive neurocutaneous condition and
altered glycosphingolipids and O-linked glycan
expression.
C. Schwartz, L. Boccuto, Q. Zhang, F.
Bartel, K. Aoki, X. Fan, R. Saul, A. Chaubey, H. Wang,
R. Steet, M. Tiemeyer, X. Yong.
71
/5:15
Mutations within a component of the
oligosaccharyltransferase complex identified by
next-generation sequencing are implicated in
congenital disorders of glycosylation.
M. A. Jones,
B. G. Ng, P. He, M.-E. Losfeld, S. Bhide, D.
Rhodenizer, E. L. H. Chin, M. He, H. H. Freeze, M. R.
Hegde.
72
/5:30
Whole exome sequencing identifies a novel
mitochondrial enzyme as the gene responsible for
combined malonic and methylmalonic aciduria.
J.
L. Sloan, J. J. Johnston, I. Manoli, R. J. Chandler, C.
Krause, N. Carrillo-Carrasco, S. D. Chandrasekaran, J.
R. Sysol, K. O’Brien, N. S. Hauser, J. C. Sapp, H. M.
Dorward, M. Huizing, NIH Intramural Sequencing
Center, B. A. Barshop, S. Berry, P. M. James, N. L.
Champaigne, P. de Lonlay, V. Valayannopoulos, M. D.
Geschwind, D. K. Gavrilov, W. L. Nyhan, L. G.
Biesecker, C. P. Venditti.
73
/5:45
Identification of mutations causing
mitochondrial DNA depletion and translation
defects by next-generation sequencing.
S. C. Lim,
S. E. Calvo, A. G. Compton, S. G. Hershman, T.
Yamazaki, J. Sceneay, C. Sugiana, A. Laskowski, V. K.
Mootha, D. R. Thorburn.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
74
/6:00
Achieving a novel dynamic in mitochondr
diseases: Identification of mitochondrial
microRNAs.
A. Henrion Caude, S. Bandiera, S.
Ruberg, M. Girard, S. Hanein, A. Munnich, S. Lyonn