MECP2 mutations in Serbian Rett syndrome patients

Acta Neurologica Scandinavica

Volumn 116, Issue 6, 2007, Pages 413-419

  Djarmati, A ^a,b   Dobricic V ^a   Kecmanovic M ^a   Marsh, P ^c   Jancic Stefanovic J ^a   Klein, C ^b   Djuric M ^d   Romac, S ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d Mother and Child Health Care Institute of Serbia   (Serbia)

Author keywords

Genotype phenotype correlation; MECP2 mutations; Rett syndrome; Serbia; X linked mental retardation

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MORBIDITY; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RETT SYNDROME; REVIEW; SINGLE STRAND CONFORMATION POLYMORPHISM; SPECTROSCOPY; YUGOSLAVIA;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; RETT SYNDROME; SENSITIVITY AND SPECIFICITY; SEX FACTORS; YUGOSLAVIA;

EID: 35748946016     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2007.00893.x     Document Type: Review

References (15)

1. Hagberg B. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 1985 74 : 405 8.
2. 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.
3. Nan X, Bird A. The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome. Brain Dev 2001 23 : S32 7.
4. Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist 2004 10 : 118 28.
5. Rettbase IRSA MECP2 Variation Database. Available at: http://mecp2.chw.edu.au/MECP2 (Last accessed 9 May, 2007).
6. Ravn K, Nielsen JB, Skjedal OH, Kerr M, Schwartz M. Large genomic rearrangements in MECP2. Hum Mutat 2005 25 : 324.
7. 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 : 9 18.
8. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992 51 : 1229 39.
9. Kerr AM, Nomura Y, Armstrong D et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001 23 : 4.
10. Trappe R, Laccone F, Cobilanschi J et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001 68 : 1093 101.
11. Leonard H, Colvin L, Christodoulou J et al. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet 2003 40 : e52.
12. 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.
13. Lee SS, Wan M, Francke U. Spectrum of MECP2 mutations in Rett syndrome. Brain Dev 2001 23 (Suppl. 1 S138 43.
14. Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet 2000 16 : 2365 75.
15. Smeets E, Terhal P, Casaer P et al. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 2005 132 : 117 20.