Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: Two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 62, Issue 4, 1996, Pages 350-352

  Ishikawa, Tatsuya ^a   Kibe, Tetsuya ^a   Wada, Yoshiro ^a  

^a NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

Author keywords

Chromosome mapping; DNA probes; Fluorescence in situ hybridization; Prader Willi syndrome; Sibling relations; Small nuclear ribonucleoproteins

Indexed keywords

SMALL NUCLEAR RIBONUCLEOPROTEIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROTEIN DETERMINATION; SIBLING;

ADULT; AUTOANTIGENS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; PRADER-WILLI SYNDROME; RIBONUCLEOPROTEINS, SMALL NUCLEAR;

EID: 0030000777     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960424)62:4<350::AID-AJMG6>3.0.CO;2-V     Document Type: Article

References (22)

1. Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L (1995). FISH analysis in Prader-Willi and Angelman syndrome patients. Am J Med Genet 56:224-228.
2. 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.
3. 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. Nature Genet 9:395-400.
4. Butler MG, Palmer CG (1983): Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1:1285-1286.
5. Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA (1994): Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet 52:85-91.
6. Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ (1993): Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2:2001-2005.
7. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993): Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
8. Ishikawa T, Kanayama M, Wada Y (1987): Prader-Willi syndrome in two siblings: One with normal karyotype, one with a terminal deletion of distal Xq. Clin Genet 32:295-299.
9. Kennerknecht I (1992): Differentiated recurrence risk estimations in the Prader-Willi syndrome. Clin Genet 41:303-308.
10. Knoll JHM, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM, Wingrove P, Sikela JM, Lalande M (1993): FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet 2:183-189.
11. Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC, Ledbetter DH (1992): Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1:417-425.
12. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD (1981): Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304:325-329.
13. McKusick VA (1994): "Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders." 11th ed. Baltimore: Johns Hopkins University Press, pp 1208-1214.
14. Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH (1993): A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 18:546-552.
15. Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL (1994): Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet 3:309-315.
16. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989): Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
17. Örstavik KH, Tangsrud SE, Kiil R, Hansteen I- L, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Bröndum-Nielsen K (1992): Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am J Med Genet 44:534-538.
18. Özçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U (1992): Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet 2:265-269.
19. Reed ML, Leff SE (1994): Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet 6:163-167.
20. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994): Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747.
21. 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. Nature Genet 8:52-58.
22. Woodage T, Deng Z-M, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ (1994): A variety of genetic mechanisms are associated with the Prader-Willi syndrome. Am J Med Genet 54:219-226.