Influence of MECP2 gene mutation and x-chromosome inactivation on the Rett syndrome phenotype

Journal of Child Neurology

Volumn 19, Issue 7, 2004, Pages 503-508

  Chae, Jong Hee ^a   Hwang, Hee ^a   Hwang, Yong Seung ^a   Cheong, Hee Jung ^b   Kim, Ki Joong ^a  

^a Seoul National University   (South Korea)

^b National Health Insurance Corporation   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; PROLINE; SERINE;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE MUTATION; GENE REPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC PARAMETERS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; INFANT; LANGUAGE DISABILITY; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SEQUENCE ANALYSIS; X CHROMOSOME INACTIVATION;

EID: 8344271952     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738040190070501     Document Type: Article

References (28)

1. Percy AK: Rett syndrome. Curr Opin Neurol 1995;8:156-160.
2. Naidu SB: Rett syndrome. Indian J Pediatr 1997;64:651-659.
3. Hagberg B, Aicardi J, Dias K, Ramos O: A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983;14:471-479.
4. Hagberg B, Hagberg G: Rett syndrome: Epidemiology and geographical variability. Eur Child Adolesc Psychiatry 1997; 6(Suppl 1):5-7.
5. Amir RE, Van den Veyver IB, Wan M, et al: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188.
6. Amano K, Nomura Y, Segawa M, Yamakawa K: Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J Hum Genet 2000;45:231-236.
7. Amir RE, Van den Veyver IB, Schultz R, et al: Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000;47:670-679.
8. Laccone F, Huppke P, Hanefeld F, Meins M: Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum Mutat 2001;17:183-190.
9. Huppke P, Laccone F, Kramer N, et al: Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000;9:1369-1375.
10. Giunti L, Pelagatti S, Lazzerini V, et al.: Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: Tentative genotype/phenotype correlation. Brain Dev 2001;23(Suppl 1):S242-S245.
11. Xiang F, Buervenich S, Nicolao P et al: Mutation screening in Rett syndrome patients. J Med Genet 2000;37:250-255.
12. Cheadle JP, Gill H, Fleming N, et al: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location. Hum Mol Genet 2000;9:1119-1129.
13. Bienvenu T, Villard L, De Roux N, et al: Spectrum of MECP2 mutations in Rett syndrome. Genet Test 2002;6(1):1-6.
14. Bienvenu T, Carrie A, De Roux N, et al: MECP2 mutations account for most cases of typical fonus of Rett syndrome. Hum Mol Genet 2000;9:1377-1384.
15. Chae JH, Hwang YS, Kim KJ: Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 2002;17:33-36.
16. Diagnostic criteria for Rett syndrome: The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol 1988;23:425-428.
17. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:12-15.
18. Kubota T, Nonoyama S, Tonoki H, et al: A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 1999;104:49-55.
19. Amir RE, Zoghbi HY. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 2000;97:147-152.
20. Xiang F, Buervenich S, Nicolao P, et al: Mutation screening in Rett syndrome patients. J Med Genet 2000;37:250-255.
21. Bourdon V, Philippe C, Labrune O, et al: A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet 2001;108: 43-50.
22. Wan M, Lee SS, Zhang X, et al: Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999;65:1520-1529.
23. Hoffbuhr KC, Moses LM, Jerdonek MA, et al: Associations between MECP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Der Disabil Res Rev 2002;8:99-105.
24. Dragich J, Houwink-Manville I, Schanen C: Rett syndrome: A surprising result of mutation in MECP2. Hum Mol Genet 2000;9: 2365-2375.
25. Villard L, Kpebe A, Cardoso C, et al: Two affected boys in a Rett syndrome family: Clinical and molecular findings. Neurology 2000;55:1188-1193.
26. Huppke P, Held M, Hanefeld F, et al: Tnfluence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002;33:63-68.
27. Kerr AM, Nomura Y, Armstrong D, et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001;23:208-211.
28. Weaving LS, Williamson SL, Bennetts B, et al: Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 2003;118A:103-114.