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Angelman Syndrome

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Book cover Atlas of Genetic Diagnosis and Counseling

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References

  • American Society for Human Genetics. (1996). Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. American Journal of Human Genetics, 58, 1085–1088.

    Google Scholar 

  • Angelman, H. (1965). “Puppet children”: A report of three cases. Developmental Medicine and Child Neurology, 7, 681–688.

    Article  Google Scholar 

  • Brannan, C. I., & Bartolomei, M. S. (1999). Mechanisms of genomic imprinting. Current Opinion in Genetics and Development, 9, 164–170.

    Article  PubMed  CAS  Google Scholar 

  • Brockmann, K., Bohm, R., & Burger, J. (2002). Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect. Journal of Medical Genetics, 39, e51–e53.

    Article  PubMed  CAS  Google Scholar 

  • Brunetti-Pierri, N., Berg, J. S., Scaglia, F., et al. (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nature Genetics, 40, 1466–1471.

    Article  PubMed  CAS  Google Scholar 

  • Buiting, K. (2010). Prader-Willi syndrome and Angelman syndrome. American Journal of Medical Genetics Part C Seminars Medical Genetics, 154C, 365–376.

    Article  CAS  Google Scholar 

  • Buiting, K., Dittrich, B., Gross, S., et al. (1998). Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. American Journal of Human Genetics, 63, 170–180.

    Article  PubMed  CAS  Google Scholar 

  • Buntinx, I. M., Henneckam, R. C. M., Brouwer, O. F., et al. (1995). Clinical profile of Angelman syndrome at different ages. American Journal of Medical Genetics, 56, 176–183.

    Article  PubMed  CAS  Google Scholar 

  • Cassidy, S. B. (2000). Prader-Willi and Angelman syndromes: Sister imprinted disorders. American Journal of Medical Genetics, 97, 136–146.

    Article  PubMed  CAS  Google Scholar 

  • Cassidy, S. B., & Schwartz, S. (1998). Prader-Willi and Angelman syndromes: Disorders of genomic imprinting. Medicine, 77, 140–151.

    Article  PubMed  CAS  Google Scholar 

  • Chan, C. T., Clayton-Smith, J., Cheng, X. J., et al. (1993). Molecular mechanisms in Angelman syndrome: A survey of 93 patients. Journal of Medical Genetics, 30, 895–902.

    Article  PubMed  CAS  Google Scholar 

  • Cheung, S. W., Shaffer, L. G., Richards, C. S., et al. (1997). Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosome 15. American Journal of Medical Genetics, 72, 47–50.

    Article  PubMed  CAS  Google Scholar 

  • Christianson, A. L., Stevenson, R. E., van der Meyden, C. H., et al. (1999). X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24–q27. Journal of Medical Genetics, 36, 759–766.

    PubMed  CAS  Google Scholar 

  • Clayton-Smith, J. (1993). Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals. American Journal of Medical Genetics, 46, 12–15.

    Article  PubMed  CAS  Google Scholar 

  • Clayton-Smith, J., & Laan, L. (2003). Angelman syndrome: A review of the clinical and genetic aspects. Journal of Medical Genetics, 40, 87–95.

    Article  PubMed  CAS  Google Scholar 

  • Clayton-Smith, J., & Pembrey, M. (1992). Angelman syndrome. Journal of Medical Genetics, 29, 412–415.

    Article  PubMed  CAS  Google Scholar 

  • Engel, E., & Antonarakis, S. E. (2002). Genomic imprinting and uniparental disomy in medicine. Clinical and molecular aspects. New York: Wiley-Liss.

    Google Scholar 

  • Fang, P., Lev-Lehman, E., Tsai, T. F., et al. (1999). The spectrum of mutations in UBE3A causing Angelman syndrome. Human Molecular Genetics, 8, 129–135.

    Article  PubMed  CAS  Google Scholar 

  • Fridman, C. (2000). Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome. American Journal of Medical Genetics, 94, 249–253.

    Article  PubMed  CAS  Google Scholar 

  • Fryburg, J. S., Breg, W. R., & Lindgren, V. (1991). Diagnosis of Angelman syndrome in infants. American Journal of Medical Genetics, 38, 58–64.

    Article  PubMed  CAS  Google Scholar 

  • Gilbert, H. L., Buxton, J. L., Chan, C. T., et al. (1997). Counselling dilemmas associated with the molecular characterization of two Angelman syndrome families. Journal of Medical Genetics, 34, 651–655.

    Article  PubMed  CAS  Google Scholar 

  • Gilfillan, G. D., Selmer, K. K., Roxrud, I., et al. (2008). SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. American Journal of Human Genetics, 82, 1003–1010.

    Article  PubMed  CAS  Google Scholar 

  • Gitiaux, C., Ceballos-Picot, I., Marie, S., et al. (2009). Misleading behavioural phenotype with adenylosuccinate lyase deficiency. European Journal of Human Genetics, 17, 133–136.

    Article  PubMed  CAS  Google Scholar 

  • Glenn, C. C., Deng, G., Michaelis, R. C., et al. (2000). DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenatal Diagnosis, 20, 300–306.

    Article  PubMed  CAS  Google Scholar 

  • Glenn, C. C., Saitoh, S., Jong, M. T. C., et al. (1996). Expression, DNA methylation, and gene structure of the human SNRPN gene. American Journal of Human Genetics, 58, 335–346.

    PubMed  CAS  Google Scholar 

  • Gyftodimou, J. (1999). Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clinical Genetics, 55, 483–486.

    Article  PubMed  CAS  Google Scholar 

  • Horsthemke, B., Maat-Kievit, A., Sleegers, E., et al. (1996). Familial translocations involving 15q11–q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. Journal of Medical Genetics, 33, 848–851.

    Article  PubMed  CAS  Google Scholar 

  • Khan, N. L. (1999). Prader-Willi and Angelman syndromes: Update on genetic mechanisms and diagnostic complexities. Current Opinion in Neurology, 12, 149–154.

    Article  PubMed  CAS  Google Scholar 

  • Kishino, T., Lalande, M., & Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics, 15, 70–73.

    Article  PubMed  CAS  Google Scholar 

  • Knoll, J. H. M., Nicholls, R. D., Magenis, R. R., et al. (1989). Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American Journal of Medical Genetics, 32, 285–290.

    Article  PubMed  CAS  Google Scholar 

  • Kokkonen, H., & Leisti, J. (2000). An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. Human Genetics, 107, 83–85.

    Article  PubMed  CAS  Google Scholar 

  • Laan, L. A. (1999). Angelman syndrome: A review of clinical and genetic aspects. Clinical Neurology and Neurosurgery, 101, 161–170.

    Article  PubMed  CAS  Google Scholar 

  • Lalande, M. (1999). Parental imprinting and Angelman syndrome. Advances in Neurology, 79, 421–429.

    PubMed  CAS  Google Scholar 

  • Ledbetter, D., & Niikawa, N. (1994). Molecular and clinical study of 61 Angelman syndrome patients. American Journal of Medical Genetics, 52, 158–163.

    Article  Google Scholar 

  • Lossie, A. C., & Driscoll, D. J. (1999). Transmission of Angelman syndrome by an affected mother. Genetics in Medicine, 1, 262–266.

    Article  PubMed  CAS  Google Scholar 

  • Lossie, A. C., Whitney, M. M., Amidon, D., et al. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Journal of Medical Genetics, 38, 834–845.

    Article  PubMed  CAS  Google Scholar 

  • Malzac, P., Webber, H., Moncla, A., et al. (1998). Mutation analysis of UBE3A in Angelman syndrome patients. American Journal of Human Genetics, 62, 1353–1360.

    Article  PubMed  CAS  Google Scholar 

  • Moncla, A., Malzac, P., Livet, M. O., et al. (1999). Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: Clinical manifestations and genetic counselling. Journal of Medical Genetics, 36, 554–560.

    PubMed  CAS  Google Scholar 

  • Nicholls, R. D. (1993). Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review. American Journal of Medical Genetics, 46, 16–25.

    Article  PubMed  CAS  Google Scholar 

  • Nicholls, R., Saitoh, S., & Horsthemke, B. (1998). Imprinting in Prader-Willi and Angelman syndromes. Trends in Genetics, 14, 194–200.

    Article  PubMed  CAS  Google Scholar 

  • Ohta, T., Buiting, K., Kokkonen, H., et al. (1999). Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. American Journal of Human Genetics, 64, 385–386.

    Article  PubMed  CAS  Google Scholar 

  • Peippo, M. M., Simola, K. O., Valanne, L. K., et al. (2006). Pitt-Hopkins syndrome in two patients and further definition of the phenotype. Clinical Dysmorphology, 15, 47–54.

    Article  PubMed  Google Scholar 

  • Petersen, M. B., Brondum-Nielsen, K., Hansen, L. K., et al. (1995). Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county. American Journal of Medical Genetics, 60, 261–262.

    Article  PubMed  CAS  Google Scholar 

  • Precht, K. S., Lese, C. M., Spiro, R. P., et al. (1998). Two 22q telomere deletions serendipitously detected by FISH. Journal of Medical Genetics, 35, 939–942.

    Article  PubMed  CAS  Google Scholar 

  • Ramsden, S. C., Clayton-Smith, J., Birch, R., et al. (2010). Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Medical Genetics, 11, 70–96.

    Article  PubMed  Google Scholar 

  • Rougeulle, C., Glatt, H., & Lalande, M. (1997). The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nature Genetics, 17, 14–15.

    Article  PubMed  CAS  Google Scholar 

  • Saitoh, S., Harada, N., Jinno, Y., et al. (1994). Molecular and clinical study of 61 Angelman syndrome patients. American Journal of Medical Genetics, 52, 158–163.

    Article  PubMed  CAS  Google Scholar 

  • Sharkey, F. H., Morrison, N., Murray, R., et al. (2009). 17q21.31 microdeletion syndrome: Further expanding the clinical phenotype. Cytogenetic and Genome Research, 127, 61–66.

    Article  PubMed  CAS  Google Scholar 

  • Smith, J. C. (2001). Angelman syndrome: Evolution of the phenotype in adolescents and adults. Developmental Medicine and Child Neurology, 43, 476–480.

    Article  PubMed  CAS  Google Scholar 

  • Spiegel, E. K., Colman, R. F., & Patterson, D. (2006). Adenylosuccinate lyase deficiency. Molecular Genetics and Metabolism, 89, 19–31.

    Article  PubMed  CAS  Google Scholar 

  • Stalker, H. J., & Williams, C. A. (1998). Genetic counseling in Angelman syndrome: The challenges of multiple causes. American Journal of Medical Genetics, 77, 54–59.

    Article  PubMed  CAS  Google Scholar 

  • Stalker, H. J., Williams, C. A., & Wagstaff, J. (1998). Genetic counseling in Angelman syndrome: Gonadal mosaicism. American Journal of Medical Genetics, 78, 482.

    Article  PubMed  CAS  Google Scholar 

  • Steffenburg, S., Gillberg, C. L., Steffenburg, U., et al. (1996). Autism in Angelman syndrome: A population-based study. Pediatric Neurology, 14, 131–136.

    Article  PubMed  CAS  Google Scholar 

  • Tsai, T. F., Raas-Rothschild, A., Ben-Neriah, Z., et al. (1998). Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. American Journal of Human Genetics, 63, 1561–1563.

    Article  PubMed  CAS  Google Scholar 

  • van Bon, B. W., Koolen, D. A., Brueton, L., et al. (2010). The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype. European Journal of Human Genetics, 18, 163–170.

    Article  PubMed  Google Scholar 

  • Van Buggenhout, G., & Fryns, J.-P. (2009). Angelman syndrome (AS, MIM 105830). European Journal of Human Genetics, 17, 1367–1373.

    Article  PubMed  Google Scholar 

  • Van Lierde, A., Atza, M. G., Giardino, D., et al. (1990). Angelman’s syndrome in the first year of life. Developmental Medicine and Child Neurology, 32, 1011–1016.

    Article  PubMed  Google Scholar 

  • Webb, T., Malcolm, S., Pembrey, M. E., et al. (1993). Inheritance of parental chromosomes 15 in Angelman syndrome-implications for the family. Genetic Counsel, 4, 1–6.

    CAS  Google Scholar 

  • Willems, R. J., Dijkstra, I., Brouwer, O. F., et al. (1987). Recurrence risk in the Angelman (“happy puppet”) syndrome. American Journal of Medical Genetics, 27, 773–780.

    Article  PubMed  CAS  Google Scholar 

  • Williams, C. A. (2001). Angelman syndrome. In S. B. Cassidy & J. E. Allanson (Eds.), Management of genetic syndromes. New York: Wiley-Liss.

    Google Scholar 

  • Williams, C. A., Angelman, H., Clayton-Smith, J., et al. (1995). Angelman syndrome: Consensus for diagnostic criteria. American Journal of Medical Genetics, 56, 237–238.

    Article  PubMed  CAS  Google Scholar 

  • Williams, C. A., Beaudet, A. L., Clayton-Smith, J., et al. (2006). Angelman syndrome 2005: Updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A, 140, 413–418.

    Article  PubMed  Google Scholar 

  • Williams, C. A., Dagli, A. I., Driscoll, D. J. Angelman syndrome. GeneReviews. Updated September 5, 2008. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=angelman

  • Williams, C. A., Driscoll, D. J., & Dagli, A. I. (2010a). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12, 385–395.

    Article  PubMed  CAS  Google Scholar 

  • Williams, C. A., Lossie, A., & Driscoll, D. (2001). Angelman syndrome: Mimicking conditions and phenotypes. American Journal of Medical Genetics, 101, 59–64.

    Article  PubMed  CAS  Google Scholar 

  • Williams, S. R., Mullegama, S. V., Rosenfeld, J. A., et al. (2010b). Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. European Journal of Human Genetics, 18, 436–441.

    Article  PubMed  Google Scholar 

  • Williams, C. A., Zori, R. T., Hendrickson, J. E., et al. (1995). Angelman syndrome. Current Problems in Pediatrics, 25, 216–231.

    Article  PubMed  CAS  Google Scholar 

  • Y-h, J., Lev-Lehman, E., Bressler, J., et al. (1999). Genetics of Angelman syndrome. American Journal of Human Genetics, 65, 1–6.

    Article  Google Scholar 

  • Yu, T. H., & Hoffman, A. R. (1997). Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nature Genetics, 17, 12–13.

    Article  CAS  Google Scholar 

  • Zweier, C., Peippo, M. M., Hoyer, J., et al. (2007). Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). American Journal of Human Genetics, 80, 994–1001.

    Article  PubMed  CAS  Google Scholar 

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Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Angelman Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_13

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