A 28-kb deletion spanning D15S63 (PW71) in five families: A rare neutral variant?

American Journal of Human Genetics

Volumn 65, Issue 6, 1999, Pages 1588-1594

  Buiting, Karin ^a   Dittrich, Bärbel ^a   Dworniczak, Bernd ^b   Lerer, Israela ^c   Abeliovich, Dvorah ^c   Cottrell, Sally ^d   Temple, I Karen ^e   Harvey, John F ^f   Lich, Christina ^a   Groß, Stephanie ^a   Horsthemke, Bernhard ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^f SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL INCIDENCE; FEMALE; GENE DELETION; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOME IMPRINTING; HAPLOTYPE; HAPPY PUPPET SYNDROME; HUMAN; INHERITANCE; MALE; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

EID: 0033358576     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302670     Document Type: Article

References (21)

1. ASHG/ACMG Test and Technology Transfer Committee (1996) Diagnostic testing for Prader-Willi and Angelman syndromes: report of the ASHG/ACMG test and technology transfer committee Am J Hum Genet 58:1085-1088
2. Buchholz T, Jackson J, Smith A (1997) Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13. Am J Med Genet 72:117-119
3. Buiting K, Dittrich B, Groß S, Lich C, Färber C, Buchholz T, Smith E, et al (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 R, 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. Chotai KA, Payne SJ (1998) A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. J Med Genet 35:472-475
6. Dittrich B, Buiting K, Groß S, Horsthemke B (1994) An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13. Hum Genet 94:583-584
7. Dittrich B, Buiting K, Horsthemke B (1996a) PW71 methylation test for Prader-Willi and Angelman syndromes. Am J Med Genet 61:196-197
8. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, et al (1996b) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170
9. Dittrich B, Robinson W, 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
10. Färber C, Dittrich B, Buiting K, Horsthemke B (1999) The chromosome 15 imprinting center (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum Mol Genet 8:337-343
11. Gabriel J, Gottlieb W, Garcia A, Rogan PK, Saitoh S, Nicholls RD (1994) A common insertion/deletion polymorphism in the Prader-Willi syndrome minimal critical region. Hum Mol Genet 10:1912
12. 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
13. Kosaki K, McGiniss MJ, Veraksa AN, McGiniss WJ, Jones KL (1997) Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. Am J Med Genet 73:308-313
14. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH (1997) Methylation specific PCR simplifies imprinting analysis. Nat Genet 16:16-17
15. Kubota T, Sutcliffe JS, Aradya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, et al (1996) Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 66:77-80
16. Nicholls RD, Saitoh S, Horsthemke B (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14: 194-199
17. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, et al (1999a) Molecular mechanism of Angelman syndome in two large families involves an imprinting mutation. Am J Hum Genet 64:385-396
18. Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, et al (1999b) Imprinting mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64: 397-413
19. 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
20. 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
21. Zeschnigk M, Lich C, Buiting K, Horsthemke B, Dörfler W (1997) A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet 5:94-98