Abstract

Duplication of the maternally-derived copy of the imprinted region on chromosome 15q is associated with a major risk for autism or autism spectrum disorders. The duplications arise by homologous but unequal recombination through series of transcribed repeats in the region and variation in the alignment at crossing over lead to difference in the content and origin of the chromatin involved. The investigator?s goals are directed toward understanding the role that duplication of chromosome 15q plays in autism by examining the phenotypic sequelae in probands with known duplications. She also proposes to define the autism critical region by detailed examination of rearrangements in probands with unusual breakpoints or imprinting errors.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program--Cooperative Agreements (U19)
Project #
2U19HD035470-06
Application #
6684294
Study Section
Special Emphasis Panel (ZHD1)
Project Start
2002-09-23
Project End
2007-05-31
Budget Start
Budget End
Support Year
6
Fiscal Year
2002
Total Cost
Indirect Cost

  Institution

Name
University of California Los Angeles
Department
Type
DUNS #
119132785
City
Los Angeles
State
CA
Country
United States
Zip Code
90095

  Publications

Wegiel, Jerzy; Flory, Michael; Schanen, N Carolyn et al. (2015) Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications. Acta Neuropathol Commun 3:63
Freeman, Stephanny F N; Gulsrud, Amanda; Kasari, Connie (2015) Brief Report: Linking Early Joint Attention and Play Abilities to Later Reports of Friendships for Children with ASD. J Autism Dev Disord 45:2259-66
Gulsrud, Amanda C; Hellemann, Gerhard S; Freeman, Stephanny F N et al. (2014) Two to ten years: developmental trajectories of joint attention in children with ASD who received targeted social communication interventions. Autism Res 7:207-15
Weintraub, William S; Mandel, Leonid; Weiss, Sandra A (2013) Antiplatelet therapy in patients undergoing percutaneous coronary intervention: economic considerations. Pharmacoeconomics 31:959-70
Siller, Michael; Hutman, Ted; Sigman, Marian (2013) A parent-mediated intervention to increase responsive parental behaviors and child communication in children with ASD: a randomized clinical trial. J Autism Dev Disord 43:540-55
Wegiel, Jerzy; Schanen, N Carolyn; Cook, Edwin H et al. (2012) Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. J Neuropathol Exp Neurol 71:382-97
Wegiel, Jerzy; Frackowiak, Janusz; Mazur-Kolecka, Bozena et al. (2012) Abnormal intracellular accumulation and extracellular A? deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders. PLoS One 7:e35414
Hogart, A; Leung, K N; Wang, N J et al. (2009) Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet 46:86-93
Wang, Nicholas J; Parokonny, Alexander S; Thatcher, Karen N et al. (2008) Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genet 9:2
Bookheimer, Susan Y; Wang, A Ting; Scott, Ashley et al. (2008) Frontal contributions to face processing differences in autism: evidence from fMRI of inverted face processing. J Int Neuropsychol Soc 14:922-32

Showing the most recent 10 out of 14 publications