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Saturday, October 15
1:30
PM
–3:30
PM
Concurrent Platform Session D (68-77)
SESSION 75 – Molecular Basis IV: Musculoskeletal
Disorders
Room 710A, Level 7, Convention Center
Moderators:
Dan Cohn, Univ. of California, Los
Angeles, USA; Michele Ramsay, Natl. Hlth. Lab.,
Johannesburg, South Africa
301
/1:30
Modeling the complex human disorder of
tooth agenesis in mouse by combinatorial
reduction in gene dosage of
Prdm16
,
Pax9
, and
Msx1
.
I. Saadi, B. C. Bjork, J. J. Lund, X. P. Wang, T.
Siggers, D. J. O’Connell, P. Purcell, A. Turbe-Doan, J.
M. Dobeck, R. Meira, J. R. Avila, A. Modesto, Z.
Skobe, M. L. Bulyk, A. R. Vieira, J. C. Murray, D. R.
Beier, R. L. Maas.
302
/1:45
Exome sequencing combined with
functional analysis of zebrafish mutants elucidates
a novel pathogenesis in high bone mass
osteogenesis imperfecta.
K. Keupp, A. Nair, O.
Semler, Y. Li, H. Thiele, P. Frommolt, J. Becker, N.
Arkasu, E. Schoenau, P. Nürnberg, M.
Hammerschmidt, T. Carney, B. Wollnik.
303
/2:00
Recessive mutations in the guanidine
nucleotide exchange factor DOCK6 lead to
abnormal actin cytoskeleton organization and
Adams-Oliver syndrome.
R. Shaheen, E. Faqeih, A.
Sunker, H. Morsy, T. Al-Sheddi, H. E. Shamseldin, N.
Adly, M. Hashem, F. S. Alkuraya.
304
/2:15
Exome sequencing identifies
phospholipase B4 (
PLCB4
) as a gene causing
auriculocondylar syndrome.
M. J. Rieder, G. E.
Green, C. M. Cunniff, B. D. Stamper, S. S. Park, J. M.
Johnson, S. B. Emery, T. C. Cox, A. V. Hing, J. A.
Horst, M. L. Cunningham.
305
/2:30
Dominant negative mutations affect the
cytoplasmic functions of the co-chaperone
DNAJB6
and cause limb-girdle muscular dystrophy.
C. Golzio, J. Sarparanta, P. H. Jonson, S. Sandell, H.
Luque, M. Screen, K. McDonald, J. M. Stajich, I.
Mahjneh, A. Vihola, O. Raheem, S. Penttilä, S.
Lehtinen, S. Huovinen, J. Palmio, G. Tasca, E. Ricci, P.
Hackman, M. Hauser, N. Katsanis, B. Udd.
306
/2:45
Mutations in
CLMP
cause congenital short
bowel syndrome, pointing to the major role of
CLMP
in intestinal development.
R. M. W. Hofstra,
C. van der Werf, T. D. Wabbersen, N. H. Hsiao, J.
Paredes, H. C. Etchevers, P. M. Kroisel, D. Tibboel, C.
Babarit, R. A. Schreiber, E. J. Hoffenberg, M.
Vekemans, S. J. Zeder, I. Ceccherini, S. Lyonnet, A. S.
Ribeiro, R. Seruca, G. J. te Meerman, S. C. D. van
Ijzendoorn, I. T. Shepherd, J. B. G. M. Verheij.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
307
/3:00
Massively parallel sequencing identifies
previously unrecognized X-linked disorder resulti
in lethality in male infants due to N-terminal
acetyltransferase deficiency.
G. J. Lyon, A. Rope,
Wang, R. Evjenth, J. Xing, J. J. Johnston, J. Swens
W. E. Johnson, B. Moore, C. D. Huff, L. M. Bird, J.
Carey, J. M. Opitz, C. A. Stevens, C. Schank, H. Fai
R. Robison, B. Dalley, S. Chin, S. South, T. J. Pyshe
L. B. Jorde, H. Hakonarson, J. R. Lillehaug, L. G.
Biesecker, M. Yandell, T. Arnesen.
308
/3:15
Whole exome sequencing reveals de no
variants that affect chromatin remodeling
processes in Nicolaides-Baraitser syndrome
patients.
J. K. J. Van Houdt, B. Nowakowska, S. B.
de Sousa, B. D. C. van Schaik, E. Seuntjes, A. Sifri
Y. Moreau, G. Peeters, K. Devriendt, R. C. M.
Hennekam, J. R. Vermeesch.