The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea

Journal of Human Genetics

Volumn 58, Issue 3, 2013, Pages 150-154

  Cho, Sung Yoon ^a   Ki, Chang Seok ^a   Bae Sohn, Young ^b   Hyun Maeng, Se ^a   Jung, You Jin ^a   Kim, Su Jin ^c   Jin, Dong Kyu ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Ajou University Medical CentSuwon   (South Korea)

^c Kwandong University College of Medicine   (South Korea)

Author keywords

maternal age; microsatellite analysis; Prader Willi syndrome; uniparental disomy(15)mat

Indexed keywords

ADULT; ADVANCED MATERNAL AGE; ARTICLE; CHILDBIRTH; FEMALE; GAMETE; GAMETE COMPLEMENTATION; GENE DELETION; HUMAN; MATERNAL AGE; MEIOSIS; PRADER WILLI SYNDROME; TRISOMY; TRISOMY RESCUE; UNIPARENTAL DISOMY;

ADULT; AGE FACTORS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; HUMANS; MALE; MATERNAL AGE; MEIOSIS; MICROSATELLITE REPEATS; PRADER-WILLI SYNDROME; REPUBLIC OF KOREA; UNIPARENTAL DISOMY;

EID: 84875418526     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.148     Document Type: Article

References (21)

1. Cassidy, S. B. Prader-Willi syndrome. J. Med. Genet. 34, 917-923 (1997).
2. Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y. et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91, 398-402 (1993).
3. Cassidy, S. B. & Driscoll, D. J. Prader-Willi syndrome. Eur. J. Hum. Genet. 17, 3-13 (2009).
4. Donaldson, M. D., Chu, C. E., Cooke, A., Wilson, A., Greene, S. A. & Stephenson, J. B. The Prader-Willi syndrome. Arch. Dis. Childhood 70, 58-63 (1994).
5. Kaplan, J., Fredrickson, P. A. & Richardson, J. W. Sleep and breathing in patients with the Prader-Willi syndrome. Mayo Clinic Proc. Mayo Clinic 66, 1124-1126 (1991).
6. Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S. & Crawford, J. D. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N. Engl. J. Med. 304, 325-329 (1981).
7. Nicholls, R. D., Knoll, J. H., Butler, M. G., Karam, S. & Lalande, M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342, 281-285 (1989).
8. Driscoll, D. J., Waters, M. F., Williams, C. A., Zori, R. T., Glenn, C. C., Avidano, K. M. et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13, 917-924 (1992).
9. Cassidy, S. B., Lai, L. W., Erickson, R. P., Magnuson, L., Thomas, E., Gendron, R. et al. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am. J. Hum. Genet. 51, 701-708 (1992).
10. Jones, K. T. Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. Hum. Reprod. Update 14, 143-158 (2008).
11. Matsubara, K., Murakami, N., Nagai, T. & Ogata, T. Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J. Hum. Genet. 56, 566-571 (2011).
12. Kubota, T., Das, S., Christian, S. L., Baylin, S. B., Herman, J. G. & Ledbetter, D. H. Methylation-specific PCR simplifies imprinting analysis. Nat. Genet. 16, 16-17 (1997).
13. Kim, H. J., Cho, H. J., Jin, D. K., Kwon, E. K., Ki, C. S., Kim, J. W. et al. Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized? Clin. Genet. 66, 368-372 (2004).
14. Procter, M., Chou, L. S., Tang, W., Jama, M. & Mao, R. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin. Chem. 52, 1276-1283 (2006).
15. Harvard, C., Strong, E., Mercier, E., Colnaghi, R., Alcantara, D., Chow, E. et al. Understanding the impact of 1q21.1 copy number variant. Orphanet. J. Rare Dis. 6, 54 (2011).
16. Robinson, W. P., Kuchinka, B. D., Bernasconi, F., Petersen, M. B., Schulze, A., Brondum-Nielsen, K. et al. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum. Mol. Genet. 7, 1011-1019 (1998).
17. Akefeldt, A., Anvret, M., Grandell, U., Nordlinder, R. & Gillberg, C. Parental exposure to hydrocarbons in Prader-Willi syndrome. Dev. Med. Child Neurol. 37, 1101-1109 (1995).
18. Cassidy, S. B., Forsythe, M., Heeger, S., Nicholls, R. D., Schork, N., Benn, P. et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am. J. Med. Genet. 68, 433-440 (1997).
19. Warburton, D. Biological aging and the etiology of aneuploidy. Cytogenet. Genome Res. 111, 266-272 (2005).
20. Sherman, S. L., Freeman, S. B., Allen, E. G. & Lamb, N. E. Risk factors for nondisjunction of trisomy 21. Cytogenet. Genome Res. 111, 273-280 (2005).
21. Robinson, W. P., Langlois, S., Schuffenhauer, S., Horsthemke, B., Michaelis, R. C., Christian, S. et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat. Diagn. 16, 837-844 (1996).