Angelman syndrome in an inbred family

Human Genetics

Volumn 97, Issue 3, 1996, Pages 294-298

  Beuten, Joke ^a   Hennekam, Raoul C M ^b   Van Roy, Bernadette ^a   Mangelschots, Kathelijne ^a   Sutcliffe, James S ^c   Halley, Dicky J J ^d   Hennekam, Frederic A M ^e   Beaudet, Arthur L ^c   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^e Clinical Genetics Center Utrecht   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; DISOMY; DNA METHYLATION; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; GENETIC MARKER; HAPLOTYPE; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; INBREEDING; MALE; MENTAL DEFICIENCY; NONHUMAN; NONVERBAL COMMUNICATION; PRIORITY JOURNAL; SPEECH DISORDER;

ALLELES; ANGELMAN SYNDROME; CHROMOSOMES, HUMAN, PAIR 15; DNA; FEMALE; HUMANS; MALE; METHYLATION; PEDIGREE;

EID: 0030062813     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185757     Document Type: Article

References (33)

1. Beckmann JS, Tomfohrde J, Barnes RI, Williams M, Broux O, Richard I, Weissenbach J, Bowcock AM (1993) A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites. Hum Mol Genet 2: 2019-2030
2. 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
3. Beuten J, Sutcliffe JS, Casey BM, Hennekam RCM, Willems PJ, Beaudet AL (1995) Detection of imprinting mutations in Angelman syndrome using a probe for exon α of SNRPN. Am J Med Genet (in press)
4. Bottani A, Robinson WP, 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
5. Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B (1994) Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet 3:893-895
6. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndrome define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
7. Butler MG (1990) Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 35:319-332
8. Clayton-Smith J, Pembrey ME (1992) Angelman syndrome. J Med Genet 29:412-415
9. Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng XJ, Pembrey ME, Malcolm S (1992) A study of siblings with Angelman syndrome: tendency to inherit the same maternal, but not paternal, complement of 15q11-q13 region. Am J Med Genet 44:256-260
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-origin specific DNA methylation in 15q11-13. Hum Genet 90:313-315
11. 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
12. 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
13. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ (1993a) Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2: 1377-1382
14. Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ (1993 b) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2:2001-2005
15. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7: 246-339
16. Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N (1991a) Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet 41:54-63
17. Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N (1991b) DNA deletion and its parental origin in Angelman svndrome patients. Am J Med Genet 41:64-68
18. Horsthemke B, Dittrich B, Gillessen-Kaesbach G, Robinson W, Abeliovich D, Lerer I, Ritzén M, Anvret M, Buiting K (1994) Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and development of an improved diagnostic test. Med Genetik 1:130
19. Lindeman R, Kouts S, Woodage T, Smith A, Trent RJ (1991) Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR). Nucleic Acids Res 19:5449
20. 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
21. Meijers-Heijboer EJ, Sandkuyl LA, Brunner HG, Smeets HJM, Hoogeboom AJM, Deelen WH, van Hemel JO, Nelen MR, Smeets DFCM, Niermeijer MF, Halley DJJ (1993) Linkage analysis with chromosome 15q11-q13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet 30: 853-857
22. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993a) 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
23. Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH (1993b) A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 18:546-552
24. Nelen MR, Van der Burgt CJAM, Nillesen WN, Vis A, Smeets HJM (1994) Familial Angelman syndrome with a crossover in the critical deletion region. Am J Med Genet 52:352-357
25. Nicholls RD (1993) Genomic imprinting and uniparental disomy in Angelman and Prader Willi syndromes: a review. Am J Med Genet 46:16-25
26. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994a) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747
27. Reis A, Tyler K, Greger V, Lalande M, Sperling K (1994b) Imprinting mutations suggested by abnormal DNA methylation patterns in Angelman syndrome - a possible novel class of mutations in man. Med Genetik 1:93
28. Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234
29. 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
30. Wagstaff J, Shugart YY, Lalande M (1993) Linkage analysis in familial Angelman syndrome. Am J Hum Genet 53:105-112
31. Wilkie AOM, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DHK, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR (1990) Clinical features and molecular analysis of the β-thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the globin complex. Am J Hum Genet 46: 1127-1140
32. Willems PJ, Dijkstra I, Brouwer OF, Smit GPA (1987) Recurrence risk in the Angelman ("happy puppet") syndrome. Am J Med Genet 27:773-780
33. Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantù ES (1989) Incidence of 15q deletions in the Angelman syndrome: a survey of 12 affected persons. Am J Med Genet 32:339-345