Unexpected familial recurrence in Angelman syndrome

American Journal of Medical Genetics

Volumn 70, Issue 3, 1997, Pages 253-260

  Connerton Moyer, Kelly J ^a   Nicholls, Robert D ^c   Schwartz, Stuart ^c   Driscoll, Daniel J ^d   Hendrickson, Jill E ^e   Williams, Charles A ^d   Pauli, Richard M ^a,b,f  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^e Kls Martin   (United States)

^f Clinical Genetics Center 353   (United States)

Author keywords

Angelman syndrome; Chromosome 15 deletion; Familial; Recurrence

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHROMOSOME 15; CYTOGENETICS; DNA METHYLATION; GENE DELETION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; PEDIGREE; PHENOTYPE; POPULATION RISK; PRIORITY JOURNAL; RECURRENCE RISK;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; DNA METHYLATION; FEMALE; HUMANS; INFANT; MALE; RECURRENCE;

EID: 0030939751     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970613)70:3<253::AID-AJMG8>3.0.CO;2-X     Document Type: Article

References (37)

1. Angelman H (1965): "Puppet" children: A report on three cases. Dev Med Child Neurol 7:681-688.
2. Beuten J, Hennekam RCM, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJJ, Hennekam FAM, Beaudet AL, Willems PJ (1996): Angelman syndrome in an inbred family. Hum Genet 97:294-298.
3. Beuten J, Mangelschots K, Buntinx I, Coucke P, Brouwer OF, Hennekam RCM, Van Broeckhoven C, Willems PJ (1993): Molecular study of chromosome 15 in 22 patients with Angelman syndrome. Hum Genet 90: 489-495.
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 centre on human chromosome 15. Nat Genet 9:395-400.
5. Burd L, Vesely B, Martsolf J, Kerbeshian J (1990): Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet 37:97-99.
6. Cassidy SB, Gainey AJ, Butler MG (1989): Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. Am J Hum Genet 44:806-810.
7. Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD (1993): Difference in methylation patterns within the D15S9 region of chromosome 15q11-q13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am J Med Genet 47: 683-686.
8. Clayton-Smith J, Pembrey ME (1992): Angelman syndrome. J Med Genet 29:412-415.
9. Driscoll DJ, Waters, MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD (1992): A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13:917-924.
10. Famighetti R (ed) (1994): "The World Almanac and Book of Facts 1995." Mohawk, NJ: Funk and Wagnalls Corp., pp 752, 833.
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. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ (1993): Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2:1377-1382.
13. 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.
14. Hall BD, Smith DW (1972): Prader-Willi syndrome. J Pediatr 81:286-293.
15. Hendrickson JE, Marfatia LP, Kovak K, Magennis E, Williams CA (1992): Recurrence risk for Angelman syndrome when the proband has a deletion. In Cassidy SB (ed): "Prader Willi Syndrome and Other Chromosome 15q Deletion Disorders, NATO Series H: Cell Biology 61." Berlin: Springer-Verlag, pp 247-253.
16. Hultén M, Armstrong S, Challinor P, Gould C, Hardy G, Leedham P, Lee T, McKeown C (1991): Genomic imprinting in an Angelman and Prader-Willi translocation family. Lancet 338:638-639.
17. Knoll JHM, Nicholls RD, Magenis RE, Graham JM, Lalande M, Latt SA (1989): 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.
18. Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, Friedman JM, Kalousek D, Zonana J, Lacy D, LaFranchi S, Lahr M, Macfarlane J, Williams CPS (1990): Comparison of the 15q deletions in Prader-Willi and Angelman syndromes. Am J Med Genet 35:333-349.
19. Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJM, Hoogeboom AJM, Deelen WH, van Hemel JO, Nelen MS, Smeets DFCM, Niermeijer MF, Halley DJJ (1993): Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet 30:853-857.
20. Nicholls RD (1993): Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review. Am J Med Genet 46:16-25.
21. Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM, Wurster-Hill D, Wharton R, Latt SA (1989): Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 33:66-77.
22. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994): Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747.
23. Reiser CA, Pauli RM, Hall JG (1984): Achondroplasia: Unexpected familial recurrence. Am J Med Genet 19:245-250.
24. 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.
25. 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 (1996a): Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 68:195-206.
26. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD (1996b): 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.
27. Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N (1994): Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 52:158-163.
28. 3-subunit gene. Lancet 339:366-367.
29. Serra A, Neri G (1990): Trisomy 21: Conference report and 1990 update. Am J Med Genet Suppl 7:11-19.
30. 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 a translocation between chromosomes 6 and 15. N Engl J Med 326:807-811.
31. Strakowski SM, Butler MG (1987): Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet 1:1458.
32. Surh LC, Wang H, Hunter AGW (1994): Deletion and uniparental disomy involving the same maternal chromosome 15. N Engl J Med 330:572-573.
33. Wagstaff J, Shugart YY, Lalande M (1993): Linkage analysis in familial Angelman syndrome. Am J Hum Genet 53:105-112.
34. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT (1995a): Angelman syndrome: Consensus for diagnostic criteria. Am J Med Genet 56:237-238.
35. Williams CA, Frias JL (1982): The Angelman ("Happy Puppet") syndrome. Am J Med Genet 11:453-460.
36. Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ (1995b): Angelman syndrome. Curr Probl Pediatr 25:216-231.
37. Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA (1993): Cytogenetic and molecular analysis in Angelman syndrome. Am J Med Genet 46: 7-11.