Angelman Syndrome (AS), first described in 1965, is a genetic syndrome characterized by severe mental retardation, seizure disorder, ataxic gait, lack of speech, easily provoked smiling and laughter, and sleep disorder. AS can be caused by several different mechanisms that involve chromosome 15: 1) maternal deletions of 15q11-q13; 2) paternal uniparental disomy of chromosome 15; and 3) """"""""imprinting defects"""""""" involving chromosome 15 that cause the chromosome inherited from the mother to show functional characteristics and methylation pattern typical of a paternal chromomsome 15. Approximately 25% of AS patients do not fall into any of the above categories, and among this group there are many familial cases of AS. Many of the AS patients in this group have point mutations in a gene from 15q11-q13, UBE3A. This gene encodes a ubiquitin-protein ligase, which acts in targeting proteins for degradation by the proteasome. Mutations in this gene have the unusual property that, when transmitted from mother to child, the mutations cause AS, but when transmitted from father to child, the mutations have no phenotypic effect.
Specific Aims : 1) To determine the frequency and type of UBE3A mutations in AS patients who show normal results of fluorescence in situ hybridization and methylation analysis. 2) To determine the frequency with which UBE3A mutations in AS patients are de novo versus inherited from a phenotypically normal carrier mother.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
3M01RR002172-17S2
Application #
6265649
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
17
Fiscal Year
1999
Total Cost
Indirect Cost
Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115
Hron, Bridget M; Ebbeling, Cara B; Feldman, Henry A et al. (2017) Hepatic, adipocyte, enteric and pancreatic hormones: response to dietary macronutrient composition and relationship with metabolism. Nutr Metab (Lond) 14:44
Sakai Bizmark, Rie; Chang, Ruey-Kang R; Tsugawa, Yusuke et al. (2017) Impact of AHA's 2007 guideline change on incidence of infective endocarditis in infants and children. Am Heart J 189:110-119
Leviton, Alan; Allred, Elizabeth N; Fichorova, Raina N et al. (2016) Antecedents of inflammation biomarkers in preterm newborns on days 21 and 28. Acta Paediatr 105:274-80
Cousminer, Diana L; Widén, Elisabeth; Palmert, Mark R (2016) The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity. Curr Opin Endocrinol Diabetes Obes 23:57-65
Keerthy, Divya; Youk, Ada; Srinath, Arvind I et al. (2016) Effect of Psychotherapy on Health Care Utilization in Children With Inflammatory Bowel Disease and Depression. J Pediatr Gastroenterol Nutr 63:658-664
Faden, Maheer; Holm, Mari; Allred, Elizabeth et al. (2016) Antenatal glucocorticoids and neonatal inflammation-associated proteins. Cytokine 88:199-208
Kim, So Hyun; Joseph, Robert M; Frazier, Jean A et al. (2016) Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. J Pediatr 178:101-107.e2
Cassidy, Adam R; White, Matthew T; DeMaso, David R et al. (2016) Processing speed, executive function, and academic achievement in children with dextro-transposition of the great arteries: Testing a longitudinal developmental cascade model. Neuropsychology 30:874-85
Zhu, Jia; Choa, Ruth E-Y; Guo, Michael H et al. (2015) A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 100:E646-54
Gabard-Durnam, Laurel; Tierney, Adrienne L; Vogel-Farley, Vanessa et al. (2015) Alpha asymmetry in infants at risk for autism spectrum disorders. J Autism Dev Disord 45:473-80

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