Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 2024-2027

  Boone, Philip M ^a   Reiter, Russel J ^b   Glaze, Daniel G ^a,c   Tan, Dun Xian ^b   Lupski, James R ^a,c   Potocki, Lorraine ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b University of Texas Health Science Center   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

6 HYDROXYMELATONIN; MELATONIN;

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CIRCADIAN RHYTHM; CLINICAL FEATURE; FEMALE; GENE; HAPLOINSUFFICIENCY; HUMAN; MALE; NONSENSE MUTATION; POINT MUTATION; POLYSOMNOGRAPHY; PRIORITY JOURNAL; RAI1 GENE; SCHOOL CHILD; SLEEP DISORDER; SMITH MAGENIS SYNDROME;

ADULT; CHILD; CIRCADIAN RHYTHM; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MELATONIN; POINT MUTATION; SLEEP DISORDERS, CIRCADIAN RHYTHM; SLEEP STAGES; SMITH-MAGENIS SYNDROME; TRANSCRIPTION FACTORS;

EID: 79960521227     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34098     Document Type: Article

References (34)

1. Bi W, Park S-S, Shaw CJ, Withers MA, Patel PI, Lupski JR. 2003. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11. Am J Hum Genet 73:1302-1315.
2. Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. 2006. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet Part A 140A:2454-2463.
3. Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. 2004. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 115:515-524.
4. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. 2002. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 12:713-728.
5. Brzezinski A. 1997. Melatonin in humans. N Engl J Med 336:186-195.
6. 1-adrenergic antagonists and melatonin. J Pediatr 149:409-411.
7. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163.
8. Cheng H-YM, Obrietan K, Cain SW, Lee BY, Agostino PV, Joza NA, Harrington ME, Ralph MR, Penninger JM. 2004. Dexras1 potentiates photic and suppresses nonphotic responses of the circadian clock. Neuron 43:715-728.
9. De Leersnyder H. 2006. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: From symptoms to treatment. Trends Endocrinol Metab 17:291-298.
10. 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. J Med Genet 40:74-78.
11. De Leersnyder H, Claustrat B, Munnich A, Verloes A. 2006. Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome. Mol Cell Endocrinol 252:88-91.
12. De Leersnyder H, de Blois M-C, Claustrat B, Romana S, Albrecht U, von Kleist-Retzow J-C, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A. 2001a. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 139:111-116.
13. 1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. J Med Genet 38:586-590.
14. Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith ACM, Elsea SH. 2007. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: A meta-analysis of 105 cases. Clin Genet 71:540-550.
15. Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. 2005. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet 42:820-828.
16. Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. 2006. Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med 8:417-427.
17. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith ACM, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. 1991. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49:1207-1218.
18. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. 1996. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247-254.
19. Gropman AL, Duncan WC, Smith ACM. 2006. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 34:337-350.
20. Jan JE, Hamilton D, Seward N, Fast DK, Freeman RD, Laudon M. 2000. Clinical trials of controlled-release melatonin in children with sleep-wake cycle disorders. J Pineal Res 29:34-39.
21. Lewy AJ, Ahmed S, Latham Jackson JM, Sack RL. 1992. Melatonin shifts human circadian rhythms according to a phase-response curve. Chronobiol Int 9:380-392.
22. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PSN, Smith T, Smith ACM, Chen K-S, Lupski JR, Wilcox ER, Potocki L, Friedman TB. 2001. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 109:535-541.
23. Potocki L, Glaze D, Tan D-X, Park S-S, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. 2000. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet 37:428-433.
24. Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. 2003. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 5:430-434.
25. Reiter RJ. 1991. Pineal melatonin: Cell biology of its synthesis and of its physiological interactions. Endocr Rev 12:151-180.
26. Reiter RJ, Barlow-Walden L, Poeggeler B, Heiden SM, Clayton RJ. 1996. Twenty-four hour urinary excretion of 6-hydroxymelatonin sulfate in Down syndrome subjects. J Pineal Res 20:45-50.
27. Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K. 2010. Phenotypic consequences of copy number variation: Insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol 8:e1000543.
28. Shaw CJ, Bi W, Lupski JR. 2002. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 71:1072-1081.
29. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. 2003. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 33:466-468.
30. Smith ACM, Dykens E, Greenberg F. 1998. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Am J Med Genet (Neuropsychiatr Genet) 81:186-191.
31. Smith ACM, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E. 1986. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24:393-414.
32. Vlangos CN, Yim DKC, Elsea SH. 2003. Refinement of the Smith-Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab 79:134-141.
33. Waldhauser F, Weiszenbacher G, Frisch H, Zeitlhuber U, Waldhauser M, Wurtman RJ. 1984. Fall in nocturnal serum melatonin during prepuberty and pubescence. Lancet 1:362-365.
34. Zhdanova IV, Wurtman RJ. 1997. Efficacy of melatonin as a sleep-promoting agent. J Biol Rhythms 12:644-650.