Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

American Journal of Human Genetics

Volumn 60, Issue 3, 1997, Pages 574-580

  Greger, Valerie ^a,b,c,e   Knoll, Joan H M ^a,b,c   Wagstaff, Joseph ^a,b   Woolf, Elizabeth ^a,c,e   Lieske, Paulena ^a,c   Glatt, Heather ^a   Benn, Peter A ^d   Rosengren, Sally S ^d   Lalande, Marc ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^d UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^e MILLENNIUM PHARMACEUTICALS INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME INVERSION; DISOMY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MAPPING; HAPPY PUPPET SYNDROME; HUMAN; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ANGELMAN SYNDROME; BACTERIOPHAGE P1; CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; RESTRICTION MAPPING;

EID: 0031020198     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Angelman H (1965) "Puppet" children: a report on three cases. Dev Med Child Neurol 7:681-688
2. Beuten J, Sutcliffe JS, Casey B, Beaudet AL, Hennekam RCM, Willems PJ (1996) Detection of imprinting mutations in Angelman syndrome using a probe for exon α of SNRPN. Am J Med Genet 63:414-415
3. Breukel C, Wijnen J, Tops C, van den Klift H, Dauwerse H, Khan PM (1990) Vector-Alu PCR: a rapid step in mapping cosmids and YACs. Nucleic Acids Res 18:3097
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. Burke LW, Wiley JE, Glenn CC, Driscoll DJ, Loud KM, Smith AJW, Kushnick T (1996) Familial cryptic translocation resulting in Angelman syndrome: implications for imprinting or location of the Angelman gene? Am J Hum Genet 58: 777-784
6. Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, et al (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48
7. Clayton-Smith J, Pembrey ME (1992) Angelman syndrome. J Med Genet 29:412-415
8. Clayton Smith J, Webb T, Pembrey ME, Nichols M, Malcolm S (1992) Maternal origin of deletion 15q11-q13 in 25/25 cases of Angelman syndrome. Hum Genet 88:376-378
9. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, et al (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170
10. Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90:313-315
11. Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA (1986) Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad USA 83:4408-4412
12. n repeats. Genomics 19:157-160
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. Greger V, Reis A, Lalande M (1994) The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet 53:396-398
15. Greger V, Woolf E, Lalande M (1993) Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Hum Mol Genet 2:921-924
16. Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, et al (1991) DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet 41:64-68
17. Hoheisel JD, Nizetic D, Lehrach H (1989) Control of partial digestion combining the enzymes dam methylase and MboI. Nucleic Acids Res 17:8571-8582
18. Hudson TJ, Engelstein M, Lee MK, Ho EC, Rubenfield MJ, Adams CP, Housman DE, et al (1992) Isolation and chromosomal assignment of 100 highly informative simple sequence repeat polymorphisms. Genomics 13:622-629
19. Kaplan LC, Wharton R, Elias E, Mandell F, Donlon T, Latt SA (1987) Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. Am J Med Genet 28: 45-53
20. Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73
21. Knoll JHM, Nicholls RD, Magenis RE, Glatt K, Graham JM Jr, Kaplan L, Lalande M (1990) Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet 47:149-155
22. Knoll JH, 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
23. Knoll JHM, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PJ, Wingrove P, et al (1993) FISH ordering of reference markers and of the gene for the α 5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet 2:183-189
24. Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, et al (1992) Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-q13) by YAC cloning and FISH analysis. Hum Mol Genet 1:417-425
25. Lalande M (1997) Parental imprinting and human disease. Annu Rev Genet 30:173-195
26. Lindeman R, Kouts S, Woodage T, Smith A, Trent RJ (1992) Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR). Nucleic Acids Res 19: 5449
27. Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S (1987) Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 28:829-838
28. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour AL, Jeffreys AJ, et al (1991) Uniparental paternal disomy in Angelman's syndrome. Lancet 337:694-697
29. Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-h, Benton CS, Rommens JM, et al (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77
30. Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, et al (1992) Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet 29:853-857
31. 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-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151
32. Mutirangura A, Kuwano A, Ledbetter SA, Chinault AC, Ledbetter DH (1992a) Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/ PWS) of chromosome 15. Hum Mol Genet 1:139
33. Mutirangura A, Ledbetter SA, Kuwano A, Chinault AC, Ledbetter DH (1992b) Dinucleotide repeat polymorphism at the GABAA receptor β3 (GABRB3) locus in the Angelman/ Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet 1:67
34. Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL (1994) Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet 3:309-315
35. Pembrey ME, Fennell SJ, Van Den Berghe JA, Fitchett M, Summers D, Butler L, Clarke C, et al (1989) The association of Angelman's syndrome with deletions within 15q11-13. J Med Genet 26:73-77
36. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, et al (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747
37. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, et al (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
38. A receptor beta 3-subunit gene. Lancet 339:366-367
39. Shepherd NS, Pfrogner BD, Coulby JN, Ackerman SL, Vaidyanathan G, Sauer RH, Balkenhol TC, et al (1994) Preparation and screening of an arrayed human genomic library generated with the P1 cloning system. Proc Natl Acad Sci USA 91:2629-2633
40. Sinnett D, Wagstaff J, Glatt K, Woolf E, Kirkness EJ, Lalande M (1993) High-resolution mapping of the γ-aminobutyric acid receptor subunit β3 and α5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet 52:1216-1229
41. Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1:121-122
42. van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, et al (1995) DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 95: 562-567
43. A receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet 49:330-337
44. Wagstaff J, Knoll JH, Glatt KA, Shugart YY, Sommer A, Lalande M (1992) Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet 1:291-294
45. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, et al (1995) Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 56:237-238
46. Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H (1990) Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 35:350-353