| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
|
|
|
|
|||||||||||||
|
|
|||||||||||||||
REVIEW ARTICLE |
1 Academic Department of Medical Genetics, St Mary’s Hospital, Manchester, UK
2 Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
Correspondence to:
Dr J Clayton-Smith, Academic Department of Medical Genetics, St Mary’s Hospital, Hathersage Road, Manchester M13 0JH, UK;
jill.clayton-smith{at}cmmc.nhs.uk]
ABSTRACT
Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region. UBE3A shows tissue specific imprinting, being expressed exclusively from the maternal allele in brain. The genetic mechanisms identified so far in AS are found in 85-90% of those with the clinical phenotype and all interfere with UBE3A expression.
Keywords: Angelman syndrome; chromosome 15; genomic imprinting
This article has been cited by other articles:
|
|
 |
|
  Y. Wu, F. V. Bolduc, K. Bell, T. Tully, Y. Fang, A. Sehgal, and J. A. Fischer A Drosophila model for Angelman syndrome PNAS, August 26, 2008; 105(34): 12399 - 12404. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Sartori, L. Anesi, R. Polli, I. Toldo, A. Casarin, P. Drigo, and A. Murgia Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene J Child Neurol, August 1, 2008; 23(8): 912 - 915. [Abstract] [PDF]
|
|
|
|
|
|
W. Braam, R. Didden, M. G. Smits, and L. M. G. Curfs Melatonin for Chronic Insomnia in Angelman Syndrome: A Randomized Placebo-Controlled Trial J Child Neurol, June 1, 2008; 23(6): 649 - 654. [Abstract] [PDF]
|
|
|
|
 |
|
 S. Bowdin, C. Allen, G. Kirby, L. Brueton, M. Afnan, C. Barratt, J. Kirkman-Brown, R. Harrison, E. R Maher, and W. Reardon A survey of assisted reproductive technology births and imprinting disorders Hum. Reprod., December 1, 2007; 22(12): 3237 - 3240. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. P. Johnson, S. M. Myers, and and the Council on Children With Disabilities Identification and Evaluation of Children With Autism Spectrum Disorders Pediatrics, November 1, 2007; 120(5): 1183 - 1215. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H.-S. Chang, M. D. Anway, S. S. Rekow, and M. K. Skinner Transgenerational Epigenetic Imprinting of the Male Germline by Endocrine Disruptor Exposure during Gonadal Sex Determination Endocrinology, December 1, 2006; 147(12): 5524 - 5541. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T Sahoo, S U Peters, N S Madduri, D G Glaze, J R German, L M Bird, R Barbieri-Welge, T J Bichell, A L Beaudet, and C A Bacino Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations J. Med. Genet., June 1, 2006; 43(6): 512 - 516. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. L. Ham, A. Kumar, R. Deeter, and N. C. Schanen Does Genotype Predict Phenotype in Rett Syndrome? J Child Neurol, September 1, 2005; 20(9): 768 - 778. [Abstract] [PDF]
|
|
|
|
|
|
A. L. Ham, A. Kumar, R. Deeter, and N. C. Schanen Does Genotype Predict Phenotype in Rett Syndrome? J Child Neurol, August 1, 2005; 20(8): 768 - 778. [Abstract] [PDF]
|
|
|
|
 |
|
 K. Makedonski, L. Abuhatzira, Y. Kaufman, A. Razin, and R. Shemer MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression Hum. Mol. Genet., April 15, 2005; 14(8): 1049 - 1058. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. R. Maher Imprinting and assisted reproductive technology Hum. Mol. Genet., April 15, 2005; 14(suppl_1): R133 - R138. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J A Lamb, G Barnby, E Bonora, N Sykes, E Bacchelli, F Blasi, E Maestrini, J Broxholme, J Tzenova, D Weeks, et al. Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects J. Med. Genet., February 1, 2005; 42(2): 132 - 137. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. DAN, L. SERVAIS, S. G. BOYD, J. WAGSTAFF, and G. CHERON From Electrophysiology to Chromatin: A Bottom-Up Approach to Angelman Syndrome Ann. N.Y. Acad. Sci., December 1, 2004; 1030(1): 599 - 611. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Elgersma, J. D. Sweatt, and K. P. Giese Mouse Genetic Approaches to Investigating Calcium/Calmodulin-Dependent Protein Kinase II Function in Plasticity and Cognition J. Neurosci., September 29, 2004; 24(39): 8410 - 8415. [Full Text] [PDF]
|
|
|
|
 |
|
 J. K. Inlow and L. L. Restifo Molecular and Comparative Genetics of Mental Retardation Genetics, February 1, 2004; 166(2): 835 - 881. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. R. Maher, M. Afnan, and C. L. Barratt Epigenetic risks related to assisted reproductive technologies: Epigenetics, imprinting, ART and icebergs? Hum. Reprod., December 1, 2003; 18(12): 2508 - 2511. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
