Abstract
In 1965, Angelman reported three children with a similar pattern of severe learning disability, seizures, ataxic jerky movements, easily provoked laughter, absent speech, and dysmorphic facial features. The syndrome, which bears his name, was originally called the “happy puppet” syndrome. The incidence is estimated to be 1 in 10,000 to 1 in 40,000.
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American Society for Human Genetics: Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. Am J Hum Genet 58:1085–1088, 1996.
Angelman H: “Puppet children”: a report of three cases. Dev Med Child Neurol 7:681–688,1965.
Brannan CI, Bartolomei MS: Mechanisms of genomic imprinting. Curr Opin Genet Dev 9:164–170, 1999.
Brockmann K, Bohm R, Burger J: Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect. J Med Genet 39:e51–e53, 2002.
Buiting K, Dittrich B, Gross S, et al.: Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63:170–180, 1998.
Buntinx IM, Henneckam RCM, Brouwer OF, et al.: Clinical profile of Angelman syndrome at different ages. Am J Med Genet 56:176–183, 1995.
Cassidy SB: Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 97:136–146, 2000.
Cassidy SB, Schwartz S: Prader-Willi and Angelman syndromes: Disorders of genomic imprinting. Medicine 77:140–151, 1998.
Chan CT, Clayton-Smith J, Cheng XJ, et al.: Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet 30:895–902, 1993.
Cheung SW, Shaffer LG, Richards CS, et al.: Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosome 15. Am J Med Genet 72:47–50, 1997.
Clayton-Smith J: Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 46:12–15, 1993.
Clayton-Smith J, Pembrey M: Angelman syndrome. J Med Genet 29:412–415, 1992.
Clayton-Smith J, Laan L: Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 40:87–95, 2003.
Engel E, Antonarakis SE: Genomic Imprinting and Uniparental Disomy in Medicine. Clinical and Molecular Aspects. New York: Wiley-Liss, 2002.
Fang P, Lev-Lehman E, Tsai TF, et al.: The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8:129–135, 1999.
Fridman C: Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome. Am J Med Genet 94:249–253, 2000.
Fryburg JS, Breg WR, Lindgren V: Diagnosis of Angelman syndrome in infants. Am J Med Genet 38:58–64, 1991.
Glenn CC, Saitoh S, Jong MTC, et al.: Expression, DNA methylation, and gene structure of the human SNRPN gene. Am J Hum Genet 58:335–346, 1996.
Glenn CC, Deng G, Michaelis RC, et al.: DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn 20:300–306, 2000.
Gilbert HL, Buxton JL, Chan CT, et al.: Counselling dilemmas associated with the molecular characterization of two Angelman syndrome families. J Med Genet 34:651–655, 1997.
Gyftodimou J: Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet 55:483–486, 1999.
Jiang Y-h, Lev-Lehman E, Bressler J, et al.: Genetics of Angelman syndrome. Am J Hum Genet 65:1–6, 1999.
Khan NL: Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities. Curr Opin Neurol 12:149–154, 1999.
Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70–73, 1997.
Knoll JHM, Nicholls RD, Magenis RR, et al.: Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285–290, 1989.
Laan LA: Angelman syndrome: a review of clinical and genetic aspects. Clin Neurol Neurosurg 101:161–170, 1999.
Lalande M: Parental imprinting and Angelman syndrome. Adv Neurol 79:421–429, 1999.
Ledbetter D, Niikawa N: Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 52:158–163, 1994.
Lossie AC, Whitney MM, Amidon D, et al.: Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38:834–845, 2001.
Malzac P, Webber H, Moncla A, et al.: Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62:1353–1360, 1998.
Moncla A, Malzac P, Livet MO, et al.: Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. J Med Genet 36:554–560, 1999.
Nicholls RD: Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet 46:16–25, 1993.
Nicholls R, Saitoh S, Horsthemke B: Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14:194–200, 1998.
Ohta T, Buiting K, Kokkonen H, et al.: Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64:385, 386, 1999.
Petersen MB, Brondum-Nielsen K, Hansen LK, et al.: Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet 60:261, 262, 1995.
Rougeulle C, Glatt H, Lalande M: The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 17:14–15, 1997.
Saitoh S, Harada N, Jinno Y, et al.: Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 52:158–163, 1994.
Smith JC: Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med Child Neurol 43:476–480, 2001.
Stalker HJ, Williams CA: Genetic counseling in Angelman syndrome: the challenges of multiple causes. Am J Med Genet 77:54–59, 1998.
Stalker HJ, Williams CA, Wagstaff J: Genetic counseling in Angelman syndrome: gonadal mosaicism. Am J Med Genet 78:482, 1998.
Tsai TF, Raas-Rothschild A, Ben-Neriah Z, et al.: Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. Am J Hum Genet 63:1561–1563, 1998.
Van Lierde A, Atza MG, Giardino D, et al.: Angelman’s syndrome in the first year of life. Dev Med Child Neurol 32:1011–1016, 1990.
Webb T, Malcolm S, Pembrey ME, et al.: Inheritance of parental chromosomes 15 in Angelman syndrome-implications for the family. Genet Counsel 4:1–6, 1993.
Willems RJ, Dijkstra I, Brouwer OF, et al.: Recurrence risk in the Angelman (“happy puppet”) syndrome. Am J Med Genet 27:773–780, 1987.
Williams CA: Angelman syndrome. In: Cassidy SB, Allanson JE (eds): Management of Genetic Syndromes. New York: Wiley-Liss, 2001.
Williams CA, Lossie A, Driscoll D: Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet 101:59–64, 2001.
Williams CA, Angelman H, Clayton-Smith J, et al.: Angelman syndrome: Consensus for diagnostic criteria. Am J Med Genet 56:237–238, 1995.
Williams CA, Zori RT, Hendrickson JE, et al.: Angelman syndrome. Curr Probl Pediatr 25:216–231, 1995.
Williams CA, Dong H-J, Driscoll DJ: Angelman syndrome. Gene Reviews, 2003. http://genetests.org
Yu TH, Hoffman AR: Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17:1213, 1997.
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(2006). Angelman Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_11
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DOI: https://doi.org/10.1007/978-1-60327-161-5_11
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