Page 109 - ASHG 2012 Annual Meeting Program Guide

98
INVITED AND PLATFORM SESSIONS
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Thursday, November 8
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session C (38-46)
SESSION 43 – Genetics of Craniofacial and
Musculoskeletal Disorders
Room 124, Lower Level North, Moscone Center
Moderators
:
Irini Manoli, NHGRI/NIH; Siddharth
Prakash, Univ. of Texas Hlth. Sci. Ctr. at Houston
214
/4:30
Next-generation sequencing detects
mutations in
ISPD
as a common cause of Walker-
Warburg syndrome with defective glycosylation of
dystroglycan.
T. Roscioli, E.-J. Kamsteeg, K. Buysse,
I. Maystadt, J. van Reeuwijk, C. van den Elzen, E.
van Beusekom, M. Riemersma, R. Pfundt, L. E. L. M.
Vissers, M. Schraders, M. F. Buckley, H. G. Brunner, H.
Zhou, J. A. Veltman, C. Gilissen, G. M. S. Mancini, M.
A. Willemsen, D. Petkovi Ramada, D. Chitayat, C.
Bennett, E. Sheridan, E. A. J. Peeters, G. M. B. Tan-
Sindhunata, H. Kayserili, O. Abd El-Fattah El-Hashash,
D. L. Stemple, D. J. Lefeber, Y.-Y. Lin, H. van
Bokhoven.
215
/4:45
The identification of a novel gene
identified by exome sequencing reveals the
upstream components of the RAS/MAPK signaling
pathway involved in Noonan syndrome.
H. Yntema,
W. Nillesen, J. Paardekooper Overman, M. Bonetti,
J. de Ligt, H. Venselaar, M. Tartaglia, S. G. M. Frints,
L. E. L. M. Vissers, J. den Hertog, I. van der Burgt.
216
/5:00
DYNC2H1
mutations are commonly
found in Jeune asphyxating thoracic dysplasia
(
JATD) without extraskeletal features while
IFT140
mutations cause JATD with renal involvement.
M. Schmidts, H. H. Arts, Z. Yap, E. M. H. F. Boengers,
D. Anthony, M. M. Oud, S. Al-Turki, L. Duijkers,
J. Stalker, J. B. Yntema, A. Hoischen, R. Bogdanovic,
A. PecoAntic, C. Gillisen, H. Kayserili, I. Veltman,
A. Kutkowska, E. J. Kamsteeg, R. C. M. Hennekam,
P. Scambler, P. L. Beales, UK10K Consortium,
N. V. A. M. Knoers, R. Roepman, H. M. Mitchison.
217
/5:15
Dominant missense mutations in
ABCC9
cause Cantú syndrome.
G. van Haaften,
M. Harakalova, J. J. T. van Harssel, P. Terhal, S. van
Lieshout, K. Duran, I. Renkens, D. J. Amor, L. C.
Wilson, E. P. Kirk, C. L. S. Turner, D. Shears, S. García-
Miñaúr, M. M. Lees, A. Ross, H. Venselaar, G. Vriend,
H. Takanari, M. B. Rook, M. A. G. van der Heyden,
M. E. Swinkels, I. J. Scurr, S. F. Smithson,
N. V. Knoers, J. J. van der Smagt, I. J. Nijman,
W. P. Kloosterman, M. M. van Haelst, E. Cuppen.
218
/5:30
Reduced dosage of ERF causes complex
craniosynostosis in humans and mice, and links
ERK1/2
signaling to regulation of osteogenesis.
S. R. F. Twigg, I. Paraki, S. J. McGowan, M. Allegra,
A. L. Fenwick, V. P. Sharma, E. Vorgia, A. Zaragkoulias,
E. Sadighi Akha, S. J. Knight, H. Lord, T. Lester,
L. Izatt, A. K. Lampe, S. N. Mohammed, F. J. Stewart,
A. Verloes, L. C. Wilson, D. Johnson, S. A. Wall,
P. Hammond, J. Hughes, S. Taylor, G. Mavrothalassitis,
A. O. M. Wilkie.
219
/5:45
Mutations in the multidomain protein
MEGF8 identify a new subtype of Carpenter
syndrome associated with defective lateralization.
D. L. Lloyd, S. R. Twigg, N. Elcioglu, D. Jenkins, C. D.
O. Cooper, N. Akarsu, E. Taskiran, N. Al-Sannaa, A.
Annagür, G. Gillessen-Kaesbach, I. Stefanova, S. J. L.
Knight, J. A. Goodship, B. Keavney, P. L. Beales, O.
Gileadi, S. McGowan, A. O. M. Wilkie.
220
/6:00
Increased frequency of
FBN1
variants in
adolescent idiopathic scoliosis.
J. G. Buchan, D. A.
Alvarado, M. C. Willing, M. B. Dobbs, C. A. Gurnett.
221
/6:15
Exome sequencing in idiopathic scoliosis
reveals rare variants in
VANGL
,
a planar cell
polarity gene involved in axial development.
S. Sharma, J. A. Herring, X. Gao, D. Zhang, C. Wise.
222
/6:30
Recessive mutations in
FKBP10
,
a PPIase
known to cause type XI OI, extend the phenotype
to a congenital contracture syndrome (Kuskokwim
disease), and cause diminished collagen cross-
linking in matrix.
A. M. Barnes, M. Weis, W. A.
Cabral, E. Makareeva, E. L. Mertz, W. Paton,
G. Duncan, C. Trujillo, S. Leikin, D. R. Eyre, S. J. Bale,
J. C. Marini.