Indication for genetic testing: A checklist for Rett syndrome

Journal of Pediatrics

Volumn 142, Issue 3, 2003, Pages 332-335

  Huppke, Peter ^a   Köhler, Karola ^a   Laccone, Franco ^a   Hanefeld, Folker ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HETEROZYGOTE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; PERINATAL DEVELOPMENT; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RETT SYNDROME; SCORING SYSTEM;

EID: 0037341686     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2003.96     Document Type: Article

References (25)

1. Hagberg B. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 1985;74:405-8.
2. Rett A. [On an unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr 1966;116:723-6.
3. Hagberg B, Goutieres F, Hanefeld F, Rett A, Wilson J. Rett syndrome: criteria for inclusion and exclusion. Brain Dev 1985;7:372-3.
4. Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr 1995;84:971-6.
5. Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994;11:5-11.
6. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
7. Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, 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;9:1119-29.
8. Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000;9:1377-84.
9. Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000;9:1369-75.
10. 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;17:183-90.
11. Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 2001;38:224-8.
12. Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, et al. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev 2001;23(Suppl 1):S157-60.
13. Carter AR, Segal RA. Rett syndrome model suggests MECP2 gives neurons the quiet they need to think. Nat Neurosci 2001;4:342-3.
14. Zappella M, Meloni I, Longo I, Hayek G, Renieri A. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet 2001;104:14-22.
15. Nielsen JB, Ravn K, Schwartz M. A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. Brain Dev 2001;23(Suppl 1):S230-2.
16. Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clin Dysmorphol 2001;10:185-8.
17. Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, et al. Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation. Hum Mutat 2001;18:253.
18. Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, et al. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 2001;56:611-7.
19. Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, et al. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet 2000;37:E41.
20. Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthelemy C, Muh JP, et al. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet 2001;9:556-8.
21. Huppke P, Held M, Hanefeld F, Engel W, Laccone F. Influence of mutation type and location on phenotype in 123 patients with rett syndrome. Neuropediatrics 2002;33:63-8.
22. Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 2000;97:147-52.
23. Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 2000;55:1188-93.
24. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. AmJ Hum Genet 1999;65:1520-9.
25. Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 2001;14:171-6.