INVITED AND SPECIAL SESSIONS
Friday, October 28
8:00 AM-10:30 AM
Concurrent Platform Sessions III (41-47) Click on abstract number to view full text
SESSION 42 - Mendelian II: Disease Discovery and Functional Analysis
Hall 1
Co-Moderators: Phillip F. Chance, University of Washington, Seattle; and Leslie G. Biesecker, GDRB/NHGRI/NIH, Rockville, MD
157/8:00 Mutations in NOTCH2 cause Alagille syndrome (a heterogeneous disorder). D. Warthen, R. McDaniell, A. Pai, J. J. D. Morrissette, B. M. Kamath, D. A. Piccoli, I. D. Krantz and N. B. Spinner.
158/8:15 Risk haplotype for dyslexia on chromosome 6p22 is associated with a reduced expression of the KIAA0319 gene. S. Paracchini, B. J. Keating, R. Wade-Martins, M. Dennis, T. Caffrey, C. Franks, J. C. Knight and A. P. Monaco.
159/8:30 A Deletion in DCDC2 on 6p22 is Associated with Reading Disability. H. Meng, S. D. Smith, K. Hager, M. Held, J. Liu, R. K. Olson, B. F. Pennington, J. C. DeFries, J. Gelernter, T. O'Reilly-Pol, S. Somlo, P. Skudlarski, S. Shaywitz, B. Shaywitz, K. Marchione, G. P. Page and J. R. Gruen.
160†/8:45 Mutations in Ionotropic AMPA Receptor 3 (GluR3) in Males with X-linked Mental Retardation. Y. Wu, Y. Jiang, L. Zhang, M. Splaine, R. Huganir, C. Schwartz, D. Valle and T. Wang.
161/9:00 Identification of CUL7 mutations in the 3M syndrome. C. Huber, D. Dias-Santagata, A. Glaser, J. O'Sullivan, K. Wu, X. Xu, K. Pearce, R. Wang, G. C. M. Black, P. E. Clayton, A. Read, M. Le Merrer, A. Munnich, Z.-Q. Pan, R. Winter, V. Cormier-Daire and the Clinical Consortium on 3 M Syndrome.
162/9:15 Interferon Regulatory Factor 6 (Irf6), the mouse ortholog of the gene mutated in Van der Woude Syndrome, is essential for craniofacial, skin, and limb development. C. R. Ingraham, R. Richardson, B. Yang, J. Dixon, K. J. Trout, M. I. Malik, M. J. Dixon and B. C. Schutte.
163†/9:30 The common Bardet-Biedl syndrome type 1 (BBS1) M390R mutation is a hypomorphic allele that protects against embryonic lethality and cardiovascular defects. R. E. Davis, H. Yen, M. Tayeh, R. F. Mullins, M. A. Fath, C. C. Searby, D. Y. Nishimura, B. Yang, D. Slusarski and V. C. Sheffield.
164/9:45 Identification of the first gene causing Meckel syndrome, MKS 1. M. M. Kyttälä, J. E. Tallila, R. Salonen, M. Kestilä and L. Peltonen.
165/10:00 Mutations in UBR1, encoding an E3 ubiquitin ligase of the N-end rule pathway, cause Johanson-Blizzard syndrome. M. Zenker, J. Mayerle, A. Tagariello, K. Zerres, P. R. Durie, G. Huelskamp, C. Guzman, H. Rehder, F. A. Beemer, B. Hamel, P. Vanlieferinghen, R. Gershoni-Baruch, M. W. Vieira, Y. T. Kwon, A. Varshavsky, M. M. Lerch and A. Reis.
166/10:15 Trps1 is a repressor of the gene for the cartilage matrix component Perlecan Hspg2. H.-J. Luedecke, P. Brega, F. Kaiser and B. Horsthemke.
