Genetic basis, genetic testing and genetic counseling for Prader-Willi syndrome

Prader-Willi Syndrome

Volumn , Issue , 2013, Pages 13-34

  Butler, Merlin G ^a   Cassidy, Suzanne B ^b  

^a UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84892082322     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (30)

1. Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., and Greenberg, F. (1993). Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics, 91(2), 398-402.
2. Hawkey, C. J., and Smithies, A. 1976). The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature. J. Med. Genet., 13(2), 152-157.
3. Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., and Crawford, J. D. (1981). Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N. Engl. J. Med, 304(6), 325-329. doi: 10.1056/NEJM198102053040604.
4. Butler, M. G.(1990). Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet, 35(3), 319-332. doi: 10.1002/ajmg.1320350306.
5. Butler, M. G., and Palmer, C. G. (1983). Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet, 1(8336), 1285-1286.
6. Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S., and LaFranchi, S. (1987). Is Angelman syndrome an alternate result of del(15)(q11q13)? Am. J. Med. Genet., 28(4), 829-838. doi: 10.1002/ajmg.1320280407.
7. Nicholls, R. D., Knoll, J. H., Butler, M. G., Karam, S., and Lalande, M.(1989). Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature, 342(6247), 281-285. doi: 10.1038/342281a0.
8. Cassidy, S. B., Lai, L. W., Erickson, R. P., Magnuson, L., Thomas, E., Gendron, R., and Herrmann, J. (1992). Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am. J. Hum. Genet., 51(4), 701-708.
9. Nicholls, R. D., and Knepper, J. L. (2001). Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu. Rev. Genomics Hum. Genet, 2, 153-175. doi: 10.1146/annurev.genom.2.1.153. Merlin G. Butler and Suzanne B. Cassidy
10. Ohta, T., Gray, T. A., Rogan, P. K., Buiting, K., Gabriel, J. M., Saitoh, S., . Nicholls, R. D. (1999). Imprinting-mutation mechanisms in Prader-Willi syndrome. Am. J. Hum. Genet., 64(2), 397-413. doi: 10.1086/302233.
11. Buiting, K., Saitoh, S., Gross, S., Dittrich, B., Schwartz, S., Nicholls, R. D., and Horsthemke, B. (1995). Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat. Genet., 9(4), 395-400. doi: 10.1038/ng0495-395.
12. Cox, G. F., Burger, J., Lip, V., Mau, U. A., Sperling, K., Wu, B. L., and Horsthemke, B. (2002). Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am. J. Hum. Genet., 71 (1), 162-164. doi: 10.1086/341096.
13. Bittel, D. C., Kibiryeva, N., Sell, S. M., Strong, T. V., and Butler, M. G.(2007). Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am. J. Med. Genet. A, 143(5), 430-442. doi: 10.1002/ajmg.a.31606.
14. Christian, S. L., Robinson, W. P., Huang, B., Mutirangura, A., Line, M. R., Nakao, M., Ledbetter, D. H. (1995). Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet., 57(1), 40-48.
15. Butler, M. G.(2011). Prader-Willi syndrome: Obesity due to genomic imprinting. Curr. Genomics, 12(3), 204-215. doi: 10.2174/138920211795677877.
16. Cassidy, S. B., Schwartz, S., Miller, J. L., and Driscoll, D. J. (2012). Prader-Willi syndrome. Genet Med, 14(1), 10-26. doi: 10.1038/gim.0b013e31822bead0.
17. Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., and Butler, M. G. (2003). Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J. Med. Genet., 40(8), 568-574.
18. Kishore, S., and Stamm, S. (2006). The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science, 311(5758), 230-232. doi: 10.1126/science.1118265.
19. Driscoll, D. J., Waters, M. F., Williams, C. A., Zori, R. T., Glenn, C. C., Avidano, K. M., and Nicholls, R. D. (1992). A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics, 13(4), 917-924.
20. Buiting, K., Gross, S., Lich, C., Gillessen-Kaesbach, G., el-Maarri, O., and Horsthemke, B.(2003). Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet., 72(3), 571-577. doi: 10.1086/367926.
21. Henkhaus, R. S., Kim, S. J., Kimonis, V. E., Gold, J. A., Dykens, E. M., Driscoll, D. J., and Butler, M. G. (2012). Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet. Test. Mol. Biomarkers, 16(3), 178-186. doi: 10.1089/gtmb.2011.0115.
22. Ramsden, S. C., Clayton-Smith, J., Birch, R., and Buiting, K. (2010). Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med. Genet., 11, 70. doi: 10.1186/1471-2350-11-70.
23. Butler, M. G. (1989). Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am. J. Hum. Genet., 45(1), 140-146.
24. Gillessen-Kaesbach, G., Robinson, W., Lohmann, D., Kaya-Westerloh, S., Passarge, E., and Horsthemke, B. (1995). Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet, 96(6), 638-643.
25. Dykens, E. M. (2002). Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome? J. Child Psychol. Psychiatry, 43(3), 343-352.
26. Cassidy, S. B., Forsythe, M., Heeger, S., Nicholls, R. D., Schork, N., Benn, P., and Schwartz, S. (1997). Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am. J. Med. Genet., 68(4), 433-440.
27. Roof, E., Stone, W., MacLean, W., Feurer, I. D., Thompson, T., and Butler, M. G. (2000). Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J. Intellect Disabil. Res., 44 (Pt 1), 25-30.
28. Holland, A. J., Whittington, J. E., Butler, J., Webb, T., Boer, H., and Clarke, D. (2003). Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychol. Med., 33(1), 141-153.
29. Butler, M. G., Sturich, J., Myers, S. E., Gold, J. A., Kimonis, V., and Driscoll, D. J. (2009). Is gestation in Prader-Willi syndrome affected by the genetic subtype? J. Assist Reprod. Genet., 26(8), 461-466. doi: 10.1007/s10815-009-9341-7.
30. Butler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., and Thompson, T. (2004). Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics, 113(3 Pt 1), 565-573.