Problems in detecting mosaic DNA methylation in Angelman syndrome [2]

European Journal of Human Genetics

Volumn 11, Issue 12, 2003, Pages 913-915

  Horsthemke, Bernhard ^a   Lich, Christina ^a   Buiting, Karin ^a   Achmann, Roland ^b   Aulehla Scholz, Christa ^c   Baumer, Alessandra ^d   Bürger, Joachim ^e   Dworniczak, Bernd ^f   Gläser, Dieter ^g   Holinski Feder, Elke ^h   Janssen, Bart ⁱ   Kleinle, Stephanie ^j   Kochhan, Lothar ^k   Krasemann, Ernst ^l   Kraus, Cornelia ^m   Kroisel, Peter ⁿ   Plendl, Hansjörg ^o   Purmann, Sabine ^p   Sander, Gabriele ^q   Skladny, Heyko ^r   Spitzer, Eva ^s   Thamm Mücke, Barbara ^t   Varon Mateeva, Raymonda ^u   Weinhäusel, Andreas ^v   Weirich, Helga ^w   more..

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b GenteO   (Germany)

^c OLGAHOSPITAL   (Germany)

^d Inst für Medizinische Genetik   (Switzerland)

^e Munchener Ruckversicherungs Gesell   (Germany)

^f Institut für Humangenetik   (Germany)

^g Gregor Mendel Laboratories   (Germany)

^h Medizinisch Genetisches Zentrum München MGZ   (Germany)

ⁱ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^j Labor Nevinny Stickel   (Germany)

^k Labor Prof Arndt and Partner   (Germany)

^l Labor Fenner   (Germany)

^m UNIVERSITY HOSPITAL ERLANGEN   (Germany)

ⁿ MEDICAL UNIVERSITY OF GRAZ   (Austria)

^o UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^p Institut fuer Humangenetik   (Germany)

^q Salzburger Landeskliniken   (Austria)

^r Praxis Greiner   (Germany)

^s NONE

^t Humangenetische Praxis Partnerschaft Dr Reising Ackermann und Kollegen   (Germany)

^u CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^v ST ANNA CHILDREN S HOSPITAL   (Austria)

^w Institute for Molecular Biology   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALLELE; CHROMOSOME ARM; CHROMOSOME MOSAICISM; DIAGNOSTIC TEST; DNA DETERMINATION; DNA METHYLATION; GENE AMPLIFICATION; GENE DELETION; GENE LOSS; GENETIC ANALYSIS; GENETIC SCREENING; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; LABORATORY DIAGNOSIS; LETTER; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SENSITIVITY AND SPECIFICITY;

EID: 0346656818     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201078     Document Type: Letter

References (10)

1. Nicholls RD, Knepper JL: Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001; 2: 153-175.
2. Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W: Imprinted segments in the human genome: DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet 1997; 6: 387-395.
3. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB: Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996; 93: 9821-9826.
4. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH: Methylation-specific PCR simplifies imprinting analysis. Nat Genet 1997; 16: 16-17.
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8. Chotai KA, Payne SJ: A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. J Med Genet 1998; 35: 472-475.
9. Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B: A previously unrecognized phenotype characterized by obesity, muscular hypotonia, and ability to speak in patients with atypical Angelman syndrome caused by an imprinting defect. Eur J Hum Genet 1999; 7: 638-644.
10. Buiting K, Dittrich B, Groß S et al: Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint switch models, genetic counseling and prenatal diagnosis. Am J Hum Genet 1998; 63: 170-180.