Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

European Journal of Human Genetics

Volumn 9, Issue 7, 2001, Pages 519-526

  Runte, Maren ^a   Färber, Claudia ^a   Lich, Christina ^a   Zeschnigk, Michael ^a   Buchholz, Tina ^b   Smith, Arabella ^b   Van Maldergem, Lionel ^c   Bürger, Joachim ^d   Muscatelli, Françoise ^e   Gillessen Kaesbach, Gabriele ^a   Horsthemke, Bernhard ^a   Buiting, Karin ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^d HUMBOLDT UNIVERSITY   (Germany)

^e AIX MARSEILLE UNIVERSITY   (France)

Author keywords

Angelman syndrome; DNA methylation; Imprinting; Prader Willi syndrome

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; DIAGNOSTIC TEST; DNA METHYLATION; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MALE; PARENT; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ANGELMAN SYNDROME; BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 15; DNA; DNA METHYLATION; FAMILY HEALTH; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MICROSATELLITE REPEATS; PRADER-WILLI SYNDROME;

EID: 17844405567     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200661     Document Type: Article

References (31)

1. Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region
2. Deletions of a differentially CpG island at the SNRPN gene define a putative imprinting control region
3. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients
4. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
5. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15
6. Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
7. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
8. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
9. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
10. A familial deletion in the Prader-Willi syndrome region including the imprinting control region
11. Molecular mechanisms of Angelman syndrome in two large families involves an imprinting mutation
12. Imprinting-mutation mechanisms in Prader-Willi syndrome
13. Imprinting centre deletions in two PWS families: Implications for diagnostic testing and genetic counselling
14. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
15. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint
16. An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13
17. A common insertion/deletion polymorphism in the Prader-Willi syndrome minimal critical region
18. Imprinting in Prader-Willi and Angelman syndromes
19. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene
20. Functional imprinting and epigenetic modification of the human SNRPN gene
21. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
22. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
23. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
24. The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon SNRPN that is deleted in all Angelman syndrome patients with an IC
25. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
26. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
27. A 28-kb deletion spanning D15S63 (PW71) in five families: A rare neutral variant?
28. The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish Population
29. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
30. Imprinted segments in the human genome: Different DNA methylation patterns in the Prader-Willi/Angelman Syndrome region as determined by the genomic sequencing method
31. Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman