Paternal upd15: Further genetic and clinical studies in four angelman syndrome patients

American Journal of Medical Genetics

Volumn 92, Issue 5, 2000, Pages 322-327

  Fridman, Cintia ^a   Varela, Monica C ^a   Fernando, Kok ^a   Diament, Aron ^a   Koiffmann, Célia P ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

15q deletion; Angelman syndrome; Genomic imprinting; Meiosis II nondisjunction; Uniparental disomy

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME SATELLITE ASSOCIATION; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE LOCUS; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PRIORITY JOURNAL; UNIPARENTAL DISOMY; VERBAL BEHAVIOR;

ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; FATHERS; FEMALE; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS;

EID: 0034686464     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000619)92:5<322::AID-AJMG6>3.0.CO;2-Y     Document Type: Article

References (47)

1. Angelman H. 1965. "Puppet" children: a report on three cases. Dev Med Child Neurol 7:681-688.
2. Bottani A, Robinson WPP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A. 1994. Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet 51:35-40.
3. Buiting K, Dittrich B, Grob S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AMW, Halley DJJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonem H, Hilbert P, Maldergem LV, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. 1998. 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.
4. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. 1995. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nat Genet 9:395-400.
5. Buntinx IM, Hennekam RCM, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP. 1995. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 56:176-183.
6. Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A. 1997. Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet 61:88-93.
7. Clayton-Smith J, Pembrey ME. 1992. Angelman syndrome. J Med Genet 29:412-415.
8. Clayton-Smith J. 1992. Angelman's syndrome. Arch Dis Child 67:889-890.
9. Clayton-Smith J. 1993. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 46:12-15.
10. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:iii-v.
11. Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ. 1993. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. Am J Med Genet 45:625-630.
12. Fridman C, Varela MC, Nicholls RD, Koiffmann CP. 1998. Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. Clin Genet 54:303-308.
13. Fridman C, Santos M, Ferrari I, Koiffmann CP. 2000. Further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. Clin Genet 57:86-87.
14. Fryburg JS, Breg WR, Lindgren V. 1991. Diagnosis of Angelman syndrome in infants. Am J Med Genet 38:58-64.
15. Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B. 1995. Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am J Med Genet 56:328-329.
16. Glenn CC, Driscoll DJ, Yang TP, Nicholls RD. 1997. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Mol Hum Reprod 3:321-332.
17. Glenn CC, Saitoh S, Jong MTC, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD. 1996. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58:335-346.
18. Kishino T, Lalande M, Wagstaff J. 1997. UBE3A/E6AP mutations cause Angelman syndrome. Nat Genet 15:70-73.
19. Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. 1989. Angelman and Prader-Willi syndromes shares a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
20. Kbota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. 1996. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 66:77-80.
21. Kyllerman M. 1995. On the prevalence of Angelman syndrome. Am J Med Genet 59:405.
22. Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. 1987. Is Angelman syndrome an alternative result of del (15)(q11q13)? Am J Med Genet 28:829-838.
23. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. 1991. Uniparental paternal disomy in Angelman's syndrome. Lancet 337:694-697.
24. Malzac P, Webber H, Moncla A, Graham JM Jr, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. 1998. Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62: 1353-1360.
25. Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-h, Benton CS, Rommens JM, Beaudet AL. 1997. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77.
26. Moncla A, Perrine M, Livet M-O, Voelckel M-A, Mancini J, Delaroziere JC, Philip N, Mattei J-F. 1999. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. J Med Genet 36:554-560.
27. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. 1993. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151.
28. Nicholls RD, Pai G.S, Gottlieb W, Cantú ES. 1992. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol 32:512-518.
29. Nicholls RD. 1993. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev 3:445-456.
30. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD. 1999. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64:385-396.
31. Prasad C, Wagataff J. 1997. Genotype and phenotype in Angelman syndrome caused by paternal UPD15. Am J Med Genet 70:328-329.
32. Robb SA, Pohl KRE, Baraitser M, Wilson J, Brett EM. 1989. The "happy puppet" syndrome of Angelman: review of the clinical features. Arch Dis Child 64:83-86.
33. Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brøndum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. 1998. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 7:1011-1019.
34. Robinson WP, Knoll J. 1997. Report of the third international workshop on human chromosome 15 mapping 1996. Cytogenet Cell Genet 76:1-13.
35. Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A. 1996. Cytogenetic and age-depend risk factors associated with uniparental disomy 15. Prenat Diagn 16:837-844.
36. Robinson WP, Lorda-Sanches I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA. 1993. Increased parental ages and uniparental disomy 15: a paternal age effect? Eur J Hum Genet 1:280-286.
37. Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD. 1997. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome imprinting mutation patients. Am J Med Genet 68:195-206.
38. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, Konig R, Malcolm S, Horsthemke B, Nicholls RD. 1996. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93: 7811-7815.
39. Saitoh S, Wada T, Kuno T, Kim KC, Ohashi H, Hashimoto K, Niikawa N. 1999. Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation. Clin Genet 55:277-278.
40. Smeets DFCM, Hamel BCJ, Nelen MR, Smeets HJM, Bollen JHM, Smits APT, Ropers H-H, van Oost BA. 1992. Prader-Willi syndrome and Angelman syndrome in cousins from a family with translocation between chromosomes 6 and 15. N Engl J Med 326:807-811.
41. Smith A, Marks R, Haan E, Dixon J, Trent RJ. 1997. Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. J Med Genet 34:426-429.
42. Smith A, Robson L, Buchholz B. 1998. Normal growth in Angelman syndrome due to paternal UPD. Clin Genet 53:223-225.
43. Smith A, Willes C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. 1996. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 33:107-112.
44. Southern EM. 1975. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503-517.
45. Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. 1994. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58.
46. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT. 1995. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 56:237-238.
47. Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. 1992. Angelman syndrome: clinical profile. J Child Neurol 7:270-280.