Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome

Genetic Testing and Molecular Biomarkers

Volumn 16, Issue 3, 2012, Pages 178-186

  Henkhaus, Rebecca S ^a   Kim, Soo Jeong ^b   Kimonis, Virginia E ^c   Gold, June Anne ^c,d   Dykens, Elisabeth M ^e   Driscoll, Daniel J ^f   Butler, Merlin G ^a  

^a UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^f UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SMALL UNTRANSLATED RNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA ISOLATION; DNA METHYLATION; GENE DELETION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN TISSUE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRADER WILLI SYNDROME; TELOMERE;

ANGELMAN SYNDROME; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; DNA PROBES; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PRADER-WILLI SYNDROME; REAGENT KITS, DIAGNOSTIC; SEQUENCE DELETION; TELOMERE;

EID: 84863347919     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2011.0115     Document Type: Article

References (24)

1. Bittel DC, Butler MG (2005) Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 7:1-20.
2. Bittel DC, Kibiryeva N, Butler MG (2007) Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test 11:467-475.
3. Butler MG (2011) Prader-Willi syndrome: Obesity due to genomic imprinting. Curr Genomics 12:204-215.
4. Butler MG, Bittel DC, Kibiryeva N, et al. (2004) Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 113:565-573.
5. Butler MG, Christian SL, Kubota T, et al. (1996) A5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. Am J Med Genet 65:137-141.
6. Butler MG, Fischer W, Kibiryeva N, et al. (2008) Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A 146:854-860.
7. Butler MG, Lee PDK, Whitman BY. (2006). Management of Prader-Willi Syndrome. Springer-Verlag Publishers, New York.
8. Cassidy SB, Forsythe M, Heeger S, et al. (1997) Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 68:433-440.
9. Christian SL, Robinson WP, Huang B, et al. (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48.
10. de Smith AJ, Purmann C, Walters RG, et al. (2009) A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18:3257-3265.
11. Dimitropoulos A, Feurer ID, Roof E, et al. (2000) Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome. Ment Retard Dev Disabil Res Rev 6:125-130.
12. Dykens E (2002) Are jigsaw puzzles skills 'spared' in persons with Prader-Willi syndrome? J Child Psychol Psychiatry 43:343-352.
13. Glenn CC, Saitoh S, Jong MT, et al. (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58:335-346.
14. Hartley SL, Maclean WE, Jr., Butler MG, et al. (2005) Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A 136:140-145.
15. Jiang Y, Lev-Lehman E, Bressler J, et al. (1999) Genetics of Angelman syndrome. Am J Hum Genet 65:1-6.
16. Kishore S, Stamm S (2006) The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311:230-232.
17. Kishore S, Khanna A, Zhang Z, et al. (2010) The snoRNA MBII-2 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. Hum Mol Genet 19:1153-1164.
18. Nicholls RD, Knoll JH, Butler MG, et al. (1989) Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342:281-285.
19. Procter M, Chou LS, Tang W, et al. (2006) Molecular diagnosis of Prader-Willi and Angelman syndromes by methylationspecific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem 52:1276-1283.
20. Rogelj B (2006) Brain-specific small nucleolar RNAs. J Mol Neurosci 28:103-109.
21. Runte M, Varon R, Horn D, et al. (2005) Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet 116:228-230.
22. Sahoo T, del Gaudio D, German JR, et al. (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40:719-721.
23. Williams CA, Driscoll DJ, Dagli AI (2010) Clinical and genetic aspects of Angelman syndrome. Genet Med 12:385-395.
24. Zarcone J, Napolitano D, Peterson C, et al. (2007) The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res 51:478-487.