Rett syndrome: Prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders

Journal of Child Neurology

Volumn 22, Issue 12, 2007, Pages 1397-1400

  Wong, Virginia C N ^a   Li, Susanna Y H ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Autism spectrum disorder; Epileptic encephalopathy; MECP2 mutation; Nonsyndromal mental retardation; Prevalence among Chinese children; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; AUTISM; BRAIN DISEASE; CHILD; CHILDHOOD DISEASE; CHINESE; DEVELOPMENTAL DISORDER; EPILEPSY; FEMALE; GENE MUTATION; GENETIC SCREENING; HONG KONG; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PREVALENCE; PRIORITY JOURNAL; RETT SYNDROME; RISK FACTOR; SURVIVAL RATE; SURVIVAL TIME;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; CHINA; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENE FREQUENCY; HUMANS; INFANT; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; NERVOUS SYSTEM DISEASES; PREVALENCE; RETT SYNDROME; SEX FACTORS; SURVIVAL ANALYSIS; SURVIVAL RATE;

EID: 36749048049     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807307091     Document Type: Article

References (24)

1. Hagberg B. Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand. 1985;74(3):405-408.
2. 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(2):185-188.
3. Fukuda T., Yamashita Y., Nagamitsu S., et al. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. Brain Dev. 2005;27(3):211-217.
4. Philippe C., Villard L., De Roux N., et al. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: A molecular update. Eur J Med Genet. 2006;49(1):9-18.
5. Williamson SL, Christodoulou J. Rett syndrome: New clinical and molecular insights. Eur J Hum Genet. 2006;14(8):896-903.
6. Klauck SM, Lindsay S., Beyer KS, et al. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet. 2002;70(4): 1034-1037.
7. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association; 1994.
8. Lord C., Rutter M., Le Couteur A. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24(5):659-685.
9. Lam CW, Yeung WL, Ko CH, et al. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet. 2000;37(12):E41.
10. 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(1):43-50.
11. Census and Statistics Department, The Government of the Hong Kong Special Administrative Region. Population by district council district, 1996, 2001 and 2006. http://www.censtatd.gov.hk/hong_kong_statistics/ statistical_tables/index.jsp?htmlTableID=141&excelID=chartID=tableID= 141ID=subjectID=1. Accessed August 2, 2007.
12. Census and Statistics Department, The Government of the Hong Kong Special Administrative Region. Hong Kong resident population by quinquennial age group, sex and broad area, 2006. http://www.censtatd.gov.hk/hong_kong_statistics/statistical_tables/ index.jsp?htmlTableID=141excelID=chartID=tableID=143. Accessed August 2, 2007.
13. 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 (6): 1520 - 1529.
14. Bienvenu T., Carrie A., de Roux N., et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet. 2000;9(9):1377-1384.
15. Li MR, Pan H., Bao XH, et al. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet. 2007;52(1):38-47.
16. Boltshauser E., Kunzle C. Prevalence of Rett syndrome in Switzerland. Helv Paediatr Acta. 1987;42(5-6):407-411
17. Hagberg B., Witt-Engerstrom I. Rett syndrome: Epidemiology and nosology: progress in knowledge 1986: A conference communication. Brain Dev. 1987; 9 (5): 451 - 457.
18. Kozinetz CA, Skender ML, MacNaughton N., et al. Epidemiology of Rett syndrome: A population-based registry. Pediatrics. 1993;91(2):445-450.
19. Skjeldal OH, von Tetzchner S., Aspelund F., et al. Rett syndrome: geographic variation in prevalence in Norway. Brain Dev. 1997; 19 (4): 258 - 261.
20. Xiang F., Stenbom Y., Anvret M. MECP2 mutations in Swedish Rett syndrome clusters. Clin Genet. 2002;61(5):384-385.
21. Tejada MI, Penagarikano O., Rodriguez-Revenga L., et al. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. Clin Genet. 2006;70(2):140-144.
22. Donzel-Javouhey A., Thauvin-Robinet C., Cusin V., et al. A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis. Am J Med Genet A. 2006;140(14):1603-1607.
23. Beyer KS, Blasi F., Bacchelli E., et al. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism [published correction appears in Hum Genet. 2003; 112 (4): 436]. Hum Genet. 2002;111(4-5):305-309.
24. del Gaudio D., Fang P., Scaglia F., et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006; 8 (12): 784 - 792.