Rett syndrome: Significant clinical overlap with Angelman syndrome but not with methylation status

Journal of Child Neurology

Volumn 13, Issue 9, 1998, Pages 448-451

  Ellaway, Carolyn ^a,b   Buchholz, Tina ^b   Smith, Arabella ^b   Leonard, Helen ^c   Christodoulou, John ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; DNA METHYLATION; FEMALE; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; KARYOTYPE; MALE; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SYNDROME DELINEATION;

EID: 0031693775     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389801300907     Document Type: Article

References (27)

1. Rett A: Ueber ein cerebral-atrophisches Syndrom bei Hyper-ammoniamie. Vienna, Bruder Hollinek, 1966, pp 1-68.
2. Hagberg B: Rett syndrome: Clinical peculiarities and biological mysteries. Acta Paediatr 1995;84:971-976.
3. Clarke A: Rett syndrome: Syndrome of the month. J Med Genet 1996;33:693-699.
4. Hagberg B, Aicardi J, Dias K, Ramos O: A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome: Report of 35 cases. Ann Neurol 1983;14:471-479.
5. Zoghbi H: Genetic aspects of Rett syndrome. J Child Neurol 1988; 3(Suppl):S76-S90.
6. Migeon BR, Dunn MA, Thomas G, et al: Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet 1995;56:647-653.
7. Buhler EM, Malik NJ, Alkan M: Another model for the inheritance of Rett syndrome. Am J Med Genet 1990;36:126-131.
8. Ellison KA, Fill CP, Terwilliger J, et al: Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 1992;50:278-287.
9. Armstrong DD: The neuropathology of Rett syndrome. Brain Dev 1992;14(Suppl):S89-S98.
10. Eeg-Olofsson O, Al-Zuhair AGH, Teebi AS, El-Essa MMN: Abnormal mitochondria in Rett syndrome. Brain Dev 1988;10:260-262.
11. Eeg-Olofsson O, Al-Zuhair AGH, Teebi AS, El-Essa MMN: Rett syndrome: Genetic clues based on mitochondrial changes in muscle. Am J Med Genet 1989;32:142-144.
12. Dotti MT, Maneschi L, Malandrini A, et al: Mitochondrial dysfunction in Rett syndrome. An ultrastructure and biochemical study. Brain Dev 1993;15:103-106.
13. Naidu S, Hyman S, Harris EL, et al: Rett syndrome studies of natural history and search for a genetic marker. Neuropediatrics 1995; 26:63-66.
14. Scheffer I, Brett EM, Wilson J, Baraitser: Angelman's syndrome, letter. J Med Genet 1990;27:275-278.
15. Clayton-Smith J, Pembrey ME: Angelman syndrome. J Med Genet 1992;29:412-415.
16. Clayton-Smith J: Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals. Am J Med Genet 1993;46:12-15.
17. Casara GL, Vecchi M, Boniver C, et al: Electroclinical diagnosis of Angelman syndrome: A study of 7 cases. Brain Dev 1995;17: 64-68.
18. Smith A, Wiles C, Haan E, et al: Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 1996;33:107-112.
19. Leitner RP, Smith A: An Angelman syndrome clinic: Report on 24 patients. J Paediatr Child Health 1996;32:94-98.
20. Matsuura T, Sutcliffe JS, Fang P, et al: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997;15:74-77.
21. Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-73.
22. American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee: Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG test and technology transfer committtee. Am J Hum Genet 1996;58:1085-1088.
23. De Grouchy J, Turleau C: Cell cultures and cytogenetic preparations, in De Grouchy J, Turleau C (eds): Clinical Atlas of Human Chromosomes, 2nd ed. New York, John Wiley and Sons, 1984, pp 420-429.
24. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
25. Dittrich B, Robinson W, Knoblauch H, et al: Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent of origin specific DNA methylation in 15q11-13. Hum Genet 1992;90:313-315.
26. Angelman H: Puppet children: A report on three cases. Dev Med Child Neurol 1965;7:681-683.
27. Williams CA, Angelman H, Clavton-Smith J, et al: Angelman syndrome: Consensus for diagnostic criteria Am J Med Genet 1995;56: 237-238.